1-11883737-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883737
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883737
    reference: chr 1
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.454-27A>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.454-27A>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.454-27A>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.454-27A>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.388-27A>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.454-27A>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.454-27A>G
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37440
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

1-11883738-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883738
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883738
    reference: chr 1
allele count: 2
allele frequency: 1.648940555692967e-5
allele num: 121290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.454-26T>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.454-26T>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.454-26T>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.454-26T>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.454-26T>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.388-26T>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.454-26T>C
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6680
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7814
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3083
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

1-11883740-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883740
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883740
    reference: chr 1
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.454-24G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.454-24G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.454-24G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.388-24G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.454-24G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.454-24G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.454-24G>A
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 7813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
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genotype quality: GenotypeQuality
  all individuals: 3080
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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
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 7.25e1
  variant carriers: 0
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: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

1-11883745-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883745
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883745
    reference: chr 1
allele count: 2
allele frequency: 1.648587160803192e-5
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.454-19G>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.454-19G>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.454-19G>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.454-19G>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.454-19G>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.388-19G>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.454-19G>T
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7812
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6974
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5517
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37434
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

1-11883755-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883755
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883755
    reference: chr 1
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.454-9C>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.454-9C>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.454-9C>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.388-9C>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.454-9C>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.454-9C>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.454-9C>G
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6975
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7817
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6957
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37428
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

1-11883765-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883765
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883765
    reference: chr 1
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.455C>T
  hgvsp: ENSP00000365679.3:p.Pro152Leu
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.455C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.389C>T
  hgvsp: ENSP00000365670.3:p.Pro130Leu
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.455C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.455C>T
  hgvsp: ENSP00000234488.9:p.Pro152Leu
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.455C>T
  hgvsp: ENSP00000308367.6:p.Pro152Leu
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.455C>T
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7051
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro152Leu
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-11883766-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883766
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883766
    reference: chr 1
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.456G>A
  hgvsp: ENST00000312413.6:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.456G>A
  hgvsp: ENST00000346436.6:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.456G>A
  hgvsp: ENST00000376496.3:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.456G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.456G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.390G>A
  hgvsp: ENST00000376487.3:c.390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.456G>A
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7820
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: c.456G>A
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

1-11883770-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883770
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883770
    reference: chr 1
allele count: 6
allele frequency: 4.94266508501384e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.394G>T
  hgvsp: ENSP00000365670.3:p.Ala132Ser
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.460G>T
  hgvsp: ENSP00000308367.6:p.Ala154Ser
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.460G>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.460G>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.460G>T
  hgvsp: ENSP00000234488.9:p.Ala154Ser
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.460G>T
  hgvsp: ENSP00000365679.3:p.Ala154Ser
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.460G>T
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7824
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3088
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37425
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala154Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

1-11883776-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883776
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883776
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.466G>A
  hgvsp: ENSP00000308367.6:p.Gly156Ser
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.466G>A
  hgvsp: ENSP00000234488.9:p.Gly156Ser
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.466G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.466G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.466G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.400G>A
  hgvsp: ENSP00000365670.3:p.Gly134Ser
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.466G>A
  hgvsp: ENSP00000365679.3:p.Gly156Ser
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly156Ser
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

1-11883777-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883777
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883777
    reference: chr 1
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.467G>A
  hgvsp: ENSP00000365679.3:p.Gly156Asp
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.467G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.401G>A
  hgvsp: ENSP00000365670.3:p.Gly134Asp
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.467G>A
  hgvsp: ENSP00000234488.9:p.Gly156Asp
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.467G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.467G>A
  hgvsp: ENSP00000308367.6:p.Gly156Asp
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.467G>A
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6973
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5513
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7087
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37423
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly156Asp
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

1-11883778-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883778
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883778
    reference: chr 1
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.468T>A
  hgvsp: ENST00000346436.6:c.468T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.468T>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.468T>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.468T>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.468T>A
  hgvsp: ENST00000312413.6:c.468T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.402T>A
  hgvsp: ENST00000376487.3:c.402T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.468T>A
  hgvsp: ENST00000376496.3:c.468T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7085
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37420
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly156Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

1-11883781-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883781
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883781
    reference: chr 1
allele count: 10
allele frequency: 8.237232289950576e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.471C>T
  hgvsp: ENST00000376496.3:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.471C>T
  hgvsp: ENST00000312413.6:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.471C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.405C>T
  hgvsp: ENST00000376487.3:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.471C>T
  hgvsp: ENST00000346436.6:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.471C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.471C>T
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7816
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5772
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3088
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser157Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ

1-11883783-G-GCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883783
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883785
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: GCT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.473_474insCT
  hgvsp: ENSP00000308367.6:p.Ile159Ter
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.473_474insCT
  hgvsp: ENSP00000365679.3:p.Ile159Ter
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.473_474insCT
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.407_408insCT
  hgvsp: ENSP00000365670.3:p.Ile137Ter
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.473_474insCT
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.473_474insCT
  hgvsp: ENSP00000234488.9:p.Ile159Ter
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.473_474insCT
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7085
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile159Ter
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

1-11883785-A-ATG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883785
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883787
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: ATG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.476_477insGT
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.476_477insGT
  hgvsp: ENSP00000234488.9:p.Ile159MetfsTer9
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.476_477insGT
  hgvsp: ENSP00000308367.6:p.Ile159MetfsTer9
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.476_477insGT
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.476_477insGT
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.410_411insGT
  hgvsp: ENSP00000365670.3:p.Ile137MetfsTer9
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.476_477insGT
  hgvsp: ENSP00000365679.3:p.Ile159MetfsTer9
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7094
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  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
hgvs: p.Ile159MetfsTer9
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

1-11883790-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883790
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883790
    reference: chr 1
allele count: 7
allele frequency: 5.765872623636783e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.480C>T
  hgvsp: ENST00000346436.6:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.480C>T
  hgvsp: ENST00000312413.6:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.480C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.480C>T
  hgvsp: ENST00000376496.3:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.480C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.480C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.414C>T
  hgvsp: ENST00000376487.3:c.414C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro160Pro
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

1-11883791-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883791
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883791
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.481G>A
  hgvsp: ENSP00000234488.9:p.Glu161Lys
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.481G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.481G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.415G>A
  hgvsp: ENSP00000365670.3:p.Glu139Lys
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.481G>A
  hgvsp: ENSP00000308367.6:p.Glu161Lys
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.481G>A
  hgvsp: ENSP00000365679.3:p.Glu161Lys
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.481G>A
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu161Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

1-11883794-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883794
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883794
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.484G>A
  hgvsp: ENSP00000365679.3:p.Val162Ile
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.484G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.418G>A
  hgvsp: ENSP00000365670.3:p.Val140Ile
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.484G>A
  hgvsp: ENSP00000234488.9:p.Val162Ile
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.484G>A
  hgvsp: ENSP00000308367.6:p.Val162Ile
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.484G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.484G>A
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37419
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7106
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val162Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

1-11883804-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883804
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883804
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.494A>G
  hgvsp: ENSP00000234488.9:p.Tyr165Cys
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.494A>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.494A>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.494A>G
  hgvsp: ENSP00000365679.3:p.Tyr165Cys
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.428A>G
  hgvsp: ENSP00000365670.3:p.Tyr143Cys
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.494A>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.494A>G
  hgvsp: ENSP00000308367.6:p.Tyr165Cys
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3098
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  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: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37418
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr165Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD

1-11883806-CTGAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883806
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883802
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.499_502delAATG
  hgvsp: ENSP00000234488.9:p.Asn167AlafsTer2
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.499_502delAATG
  hgvsp: ENSP00000308367.6:p.Asn167AlafsTer2
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.499_502delAATG
  hgvsp: ENSP00000365679.3:p.Asn167AlafsTer2
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.499_502delAATG
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.499_502delAATG
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.433_436delAATG
  hgvsp: ENSP00000365670.3:p.Asn145AlafsTer2
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.499_502delAATG
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3098
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn167AlafsTer2
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: CTGAA
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

1-11883814-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883814
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883814
    reference: chr 1
allele count: 35
allele frequency: 2.882888819333476e-4
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.438C>T
  hgvsp: ENST00000376487.3:c.438C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.504C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.504C>T
  hgvsp: ENST00000376496.3:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.504C>T
  hgvsp: ENST00000346436.6:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.504C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.504C>T
  hgvsp: ENST00000312413.6:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.504C>T
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7825
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly168Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

1-11883815-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883815
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883815
    reference: chr 1
allele count: 4
allele frequency: 3.294784356363876e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.505G>A
  hgvsp: ENSP00000365679.3:p.Val169Ile
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.505G>A
  hgvsp: ENSP00000308367.6:p.Val169Ile
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.439G>A
  hgvsp: ENSP00000365670.3:p.Val147Ile
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.505G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.505G>A
  hgvsp: ENSP00000234488.9:p.Val169Ile
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.505G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.505G>A
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7110
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val169Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

1-11883815-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883815
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883815
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.505G>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.505G>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.439G>C
  hgvsp: ENSP00000365670.3:p.Val147Leu
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.505G>C
  hgvsp: ENSP00000365679.3:p.Val169Leu
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.505G>C
  hgvsp: ENSP00000234488.9:p.Val169Leu
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.505G>C
  hgvsp: ENSP00000308367.6:p.Val169Leu
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.505G>C
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37410
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2848
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val169Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

1-11883825-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883825
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883825
    reference: chr 1
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.515C>T
  hgvsp: ENSP00000365679.3:p.Pro172Leu
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.515C>T
  hgvsp: ENSP00000234488.9:p.Pro172Leu
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.449C>T
  hgvsp: ENSP00000365670.3:p.Pro150Leu
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.515C>T
  hgvsp: ENSP00000308367.6:p.Pro172Leu
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.515C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.515C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.515C>T
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  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: 3098
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro172Leu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-11883828-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883828
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883828
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.452G>T
  hgvsp: ENSP00000365670.3:p.Gly151Val
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.518G>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.518G>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.518G>T
  hgvsp: ENSP00000365679.3:p.Gly173Val
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.518G>T
  hgvsp: ENSP00000234488.9:p.Gly173Val
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.518G>T
  hgvsp: ENSP00000308367.6:p.Gly173Val
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.518G>T
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37408
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly173Val
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-11883831-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883831
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883831
    reference: chr 1
allele count: 5
allele frequency: 4.118480445454845e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.521T>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.521T>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.521T>A
  hgvsp: ENSP00000234488.9:p.Ile174Asn
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.521T>A
  hgvsp: ENSP00000308367.6:p.Ile174Asn
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.521T>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.455T>A
  hgvsp: ENSP00000365670.3:p.Ile152Asn
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.521T>A
  hgvsp: ENSP00000365679.3:p.Ile174Asn
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6682
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3088
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37411
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile174Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

1-11883832-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883832
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883832
    reference: chr 1
allele count: 54
allele frequency: 4.44803215762508e-4
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.522C>T
  hgvsp: ENST00000346436.6:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.522C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.522C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.456C>T
  hgvsp: ENST00000376487.3:c.456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.522C>T
  hgvsp: ENST00000376496.3:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.522C>T
  hgvsp: ENST00000312413.6:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.522C>T
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7811
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6960
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7105
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3095
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile174Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

1-11883833-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883833
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883833
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.523G>A
  hgvsp: ENSP00000365679.3:p.Val175Ile
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.523G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.523G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.523G>A
  hgvsp: ENSP00000234488.9:p.Val175Ile
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.523G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.523G>A
  hgvsp: ENSP00000308367.6:p.Val175Ile
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.457G>A
  hgvsp: ENSP00000365670.3:p.Val153Ile
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3094
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val175Ile
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD

1-11883836-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883836
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883836
    reference: chr 1
allele count: 3
allele frequency: 2.471088267272907e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.526C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.526C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.526C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.460C>T
  hgvsp: ENSP00000365670.3:p.Arg154Cys
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.526C>T
  hgvsp: ENSP00000365679.3:p.Arg176Cys
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.526C>T
  hgvsp: ENSP00000234488.9:p.Arg176Cys
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.526C>T
  hgvsp: ENSP00000308367.6:p.Arg176Cys
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37383
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7122
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg176Cys
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

1-11883837-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883837
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883837
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.527G>A
  hgvsp: ENSP00000234488.9:p.Arg176His
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.527G>A
  hgvsp: ENSP00000365679.3:p.Arg176His
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.461G>A
  hgvsp: ENSP00000365670.3:p.Arg154His
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.527G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.527G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.527G>A
  hgvsp: ENSP00000308367.6:p.Arg176His
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.527G>A
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6963
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3095
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg176His
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

1-11883842-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883842
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883842
    reference: chr 1
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.532C>T
  hgvsp: ENSP00000234488.9:p.Arg178Trp
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.532C>T
  hgvsp: ENSP00000365679.3:p.Arg178Trp
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.532C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.532C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.466C>T
  hgvsp: ENSP00000365670.3:p.Arg156Trp
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.532C>T
  hgvsp: ENSP00000308367.6:p.Arg178Trp
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.532C>T
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7819
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6963
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3095
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg178Trp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

1-11883843-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883843
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883843
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.533G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.533G>A
  hgvsp: ENSP00000234488.9:p.Arg178Gln
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.533G>A
  hgvsp: ENSP00000365679.3:p.Arg178Gln
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.533G>A
  hgvsp: ENSP00000308367.6:p.Arg178Gln
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.533G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.467G>A
  hgvsp: ENSP00000365670.3:p.Arg156Gln
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.533G>A
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3097
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37390
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg178Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-11883851-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883851
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883851
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.475C>A
  hgvsp: ENSP00000365670.3:p.Leu159Ile
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.541C>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.541C>A
  hgvsp: ENSP00000308367.6:p.Leu181Ile
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.541C>A
  hgvsp: ENSP00000234488.9:p.Leu181Ile
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.541C>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.541C>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.541C>A
  hgvsp: ENSP00000365679.3:p.Leu181Ile
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: missense
filter: PASS
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: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6963
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7127
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu181Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-11883857-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883857
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883857
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.547A>C
  hgvsp: ENSP00000365679.3:p.Lys183Gln
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.547A>C
  hgvsp: ENSP00000234488.9:p.Lys183Gln
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.481A>C
  hgvsp: ENSP00000365670.3:p.Lys161Gln
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.547A>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.547A>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.547A>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.547A>C
  hgvsp: ENSP00000308367.6:p.Lys183Gln
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6963
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys183Gln
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

1-11883858-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883858
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883858
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.482A>G
  hgvsp: ENSP00000365670.3:p.Lys161Arg
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.548A>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.548A>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.548A>G
  hgvsp: ENSP00000308367.6:p.Lys183Arg
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.548A>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.548A>G
  hgvsp: ENSP00000234488.9:p.Lys183Arg
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.548A>G
  hgvsp: ENSP00000365679.3:p.Lys183Arg
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6963
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys183Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

1-11883865-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883865
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883865
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.555T>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.489T>A
  hgvsp: ENST00000376487.3:c.489T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.555T>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.555T>A
  hgvsp: ENST00000376496.3:c.555T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.555T>A
  hgvsp: ENST00000312413.6:c.555T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.555T>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.555T>A
  hgvsp: ENST00000346436.6:c.555T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6963
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 8.75e1
  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: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu185Leu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

1-11883883-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883883
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883883
    reference: chr 1
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.573G>C
  hgvsp: ENST00000346436.6:c.573G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.573G>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.573G>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.573G>C
  hgvsp: ENST00000312413.6:c.573G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.573G>C
  hgvsp: ENST00000376496.3:c.573G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.507G>C
  hgvsp: ENST00000376487.3:c.507G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.573G>C
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37389
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val191Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

1-11883903-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883903
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883903
    reference: chr 1
allele count: 2
allele frequency: 1.649103712132456e-5
allele num: 121278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.580+13C>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.514+13C>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.580+13C>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.580+13C>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.580+13C>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.580+13C>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.580+13C>G
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6762
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

1-11883909-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883909
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883909
    reference: chr 1
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.580+19G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.580+19G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.580+19G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.514+19G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.580+19G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.580+19G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.580+19G>A
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7812
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6667
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

1-11883910-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883910
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883910
    reference: chr 1
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.514+20T>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.580+20T>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.580+20T>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.580+20T>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.580+20T>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.580+20T>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.580+20T>C
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7812
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2834
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37387
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

1-11883911-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883911
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883911
    reference: chr 1
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.580+21A>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.580+21A>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.580+21A>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.580+21A>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.580+21A>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.514+21A>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.580+21A>T
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6537
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37385
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum

1-11883913-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883913
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883913
    reference: chr 1
allele count: 8
allele frequency: 6.599462143835277e-5
allele num: 121222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.580+23C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.580+23C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.580+23C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.580+23C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.580+23C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.514+23C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.580+23C>T
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7816
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37389
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3082
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6439
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum

1-11883914-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883914
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883914
    reference: chr 1
allele count: 2
allele frequency: 1.649919978881024e-5
allele num: 121218
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.580+24C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.580+24C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.580+24C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.514+24C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.580+24C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.580+24C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.580+24C>T
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7812
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2978
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

1-11883918-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883918
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883918
    reference: chr 1
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.580+28A>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.580+28A>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.514+28A>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.580+28A>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.580+28A>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.580+28A>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.580+28A>G
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2914
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6255
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

1-11883921-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883921
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883922
    reference: chr 1
allele count: 8
allele frequency: 6.600551146020693e-5
allele num: 121202
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.514+32dupA
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.580+32dupA
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.580+32dupA
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.580+32dupA
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.580+32dupA
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.580+32dupA
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.580+32dupA
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7814
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6959
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7831
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3079
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-11883925-CAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883925
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883923
    reference: chr 1
allele count: 2
allele frequency: 1.650600818698006e-5
allele num: 121168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.514+37_514+38delAA
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.580+37_580+38delAA
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.580+37_580+38delAA
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.580+37_580+38delAA
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.580+37_580+38delAA
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.580+37_580+38delAA
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.580+37_580+38delAA
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37380
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: CAA
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

1-11883929-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883929
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883929
    reference: chr 1
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.514+39G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.580+39G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.580+39G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.580+39G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.580+39G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.580+39G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.580+39G>A
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7821
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37376
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

1-11883938-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883938
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883938
    reference: chr 1
allele count: 4
allele frequency: 3.307261091726886e-5
allele num: 120946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.514+48C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.580+48C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.580+48C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.580+48C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.580+48C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.580+48C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.580+48C>T
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7812
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37368
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-11883939-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11883939
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11883939
    reference: chr 1
allele count: 155
allele frequency: 1.281288231987567e-3
allele num: 120972
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.580+49G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.514+49G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.580+49G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.580+49G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.580+49G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.580+49G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.580+49G>A
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 7804
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6964
  bin: 5.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2741
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 2
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/1-11884493-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11884493
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11884493
    reference: chr 1
allele count: 1
allele frequency: 8.333333333333334e-6
allele num: 120000
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.581-50A>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.581-50A>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.581-50A>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.515-50A>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.581-50A>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.581-50A>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.581-50A>C
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6747
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46457
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

1-11884497-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11884497
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11884497
    reference: chr 1
allele count: 1
allele frequency: 8.328197611472925e-6
allele num: 120074
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.581-46G>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.581-46G>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.581-46G>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.581-46G>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.581-46G>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.515-46G>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.581-46G>T
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46463
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

1-11884498-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11884498
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11884498
    reference: chr 1
allele count: 5
allele frequency: 4.16847300496882e-5
allele num: 119948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.581-45C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.581-45C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.515-45C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.581-45C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.581-45C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.581-45C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.581-45C>T
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6715
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5734
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46457
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

1-11884499-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11884499
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11884499
    reference: chr 1
allele count: 4
allele frequency: 3.331112591605596e-5
allele num: 120080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.581-44G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.581-44G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.581-44G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.581-44G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.581-44G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.515-44G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.581-44G>A
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-11884503-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11884503
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11884503
    reference: chr 1
allele count: 3
allele frequency: 2.497585667188385e-5
allele num: 120116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.581-40C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.581-40C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.581-40C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.581-40C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.581-40C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.515-40C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.581-40C>T
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5730
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6713
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46464
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

1-11884504-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11884504
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11884504
    reference: chr 1
allele count: 1
allele frequency: 8.325008325008325e-6
allele num: 120120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.581-39T>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.581-39T>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.581-39T>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.581-39T>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.515-39T>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.581-39T>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.581-39T>C
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5731
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-11884506-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11884506
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11884506
    reference: chr 1
allele count: 3
allele frequency: 2.4982512241431e-5
allele num: 120084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.581-37C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.581-37C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.581-37C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.515-37C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.581-37C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.581-37C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.581-37C>T
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5103
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46467
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

1-11884513-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11884513
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11884513
    reference: chr 1
allele count: 1
allele frequency: 8.312413758707254e-6
allele num: 120302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.581-30T>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.581-30T>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.581-30T>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.581-30T>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.581-30T>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.515-30T>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.581-30T>G
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

1-11884520-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11884520
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11884520
    reference: chr 1
allele count: 2
allele frequency: 1.660605456749531e-5
allele num: 120438
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.515-23C>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.581-23C>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.581-23C>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.581-23C>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.581-23C>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.581-23C>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.581-23C>G
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

1-11884520-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11884520
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11884519
    reference: chr 1
allele count: 1
allele frequency: 8.303027283747654e-6
allele num: 120438
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.581-20delT
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.581-20delT
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.581-20delT
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.515-20delT
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.581-20delT
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.581-20delT
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.581-20delT
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46479
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: CT
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP

1-11884523-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11884523
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11884522
    reference: chr 1
allele count: 1
allele frequency: 8.297102651754007e-6
allele num: 120524
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.515-18delC
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.581-18delC
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.581-18delC
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.581-18delC
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.581-18delC
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.581-18delC
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.581-18delC
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46484
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: TC
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

1-11884529-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11884529
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11884529
    reference: chr 1
allele count: 1
allele frequency: 8.289262089888757e-6
allele num: 120638
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.515-14T>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.581-14T>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.581-14T>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.581-14T>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.581-14T>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.581-14T>C
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.581-14T>C
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46499
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4734
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

1-11884534-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11884534
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11884534
    reference: chr 1
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.515-9C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.581-9C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.581-9C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.581-9C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.581-9C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.581-9C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.581-9C>T
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6747
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6722
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4835
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

1-11884537-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11884537
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11884537
    reference: chr 1
allele count: 1
allele frequency: 8.274994621253496e-6
allele num: 120846
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.515-6G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.581-6G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.581-6G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.581-6G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.581-6G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.581-6G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.581-6G>A
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6069
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46540
  bin: 9.75e1
  variant carriers: 1
hgvs: c.581-6G>A
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

1-11884539-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11884539
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11884539
    reference: chr 1
allele count: 1
allele frequency: 8.270751315049459e-6
allele num: 120908
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.515-4C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.581-4C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.581-4C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.581-4C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.581-4C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.581-4C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.581-4C>T
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6069
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 6.75e1
  variant carriers: 0
hgvs: c.581-4C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

1-11884544-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11884544
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11884544
    reference: chr 1
allele count: 2
allele frequency: 1.652209830648492e-5
allele num: 121050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.516G>T
  hgvsp: ENST00000376487.3:c.516G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.582G>T
  hgvsp: ENST00000376496.3:c.582G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.582G>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.582G>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.582G>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.582G>T
  hgvsp: ENST00000346436.6:c.582G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.582G>T
  hgvsp: ENST00000312413.6:c.582G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5764
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6068
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6757
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4982
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: c.582G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-11884551-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11884551
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11884551
    reference: chr 1
allele count: 3
allele frequency: 2.476882430647292e-5
allele num: 121120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.589G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.589G>A
  hgvsp: ENSP00000365679.3:p.Val197Met
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.589G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.589G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.589G>A
  hgvsp: ENSP00000234488.9:p.Val197Met
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.523G>A
  hgvsp: ENSP00000365670.3:p.Val175Met
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.589G>A
  hgvsp: ENSP00000308367.6:p.Val197Met
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6069
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5038
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val197Met
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-11884551-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11884551
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11884551
    reference: chr 1
allele count: 2
allele frequency: 1.651254953764861e-5
allele num: 121120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.589G>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.589G>T
  hgvsp: ENSP00000365679.3:p.Val197Leu
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.589G>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.523G>T
  hgvsp: ENSP00000365670.3:p.Val175Leu
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.589G>T
  hgvsp: ENSP00000234488.9:p.Val197Leu
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.589G>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.589G>T
  hgvsp: ENSP00000308367.6:p.Val197Leu
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6069
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val197Leu
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-11884553-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11884553
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11884553
    reference: chr 1
allele count: 1
allele frequency: 8.254639107178234e-6
allele num: 121144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.591G>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.591G>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.591G>T
  hgvsp: ENST00000312413.6:c.591G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.591G>T
  hgvsp: ENST00000346436.6:c.591G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.591G>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.525G>T
  hgvsp: ENST00000376487.3:c.525G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.591G>T
  hgvsp: ENST00000376496.3:c.591G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6070
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val197Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-11884555-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11884555
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11884555
    reference: chr 1
allele count: 121317
allele frequency: 9.993657017645023e-1
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.593A>G
  hgvsp: ENSP00000365679.3:p.Glu198Gly
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.593A>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.527A>G
  hgvsp: ENSP00000365670.3:p.Glu176Gly
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.593A>G
  hgvsp: ENSP00000234488.9:p.Glu198Gly
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.593A>G
  hgvsp: ENSP00000308367.6:p.Glu198Gly
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.593A>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.593A>G
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 9.25e1
  variant carriers: 3178
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 4910
  bin: 7.75e1
  variant carriers: 4910
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 8.25e1
  variant carriers: 4216
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 8.75e1
  variant carriers: 3939
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 2.75e1
  variant carriers: 575
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 7.25e1
  variant carriers: 5032
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 6.75e1
  variant carriers: 5065
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 6.25e1
  variant carriers: 4784
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.25e1
  variant carriers: 277
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 5.75e1
  variant carriers: 4344
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 5.25e1
  variant carriers: 3669
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 3.75e1
  variant carriers: 1601
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 4.75e1
  variant carriers: 2932
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 3.25e1
  variant carriers: 1020
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 4.25e1
  variant carriers: 2334
genotype depth: GenotypeDepth
  all individuals: 12621
  bin: 9.75e1
  variant carriers: 12621
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.75e1
  variant carriers: 164
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59248
  bin: 9.75e1
  variant carriers: 59248
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 64
hgvs: p.Glu198Gly
num of homozygotes: 60620
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

1-11884557-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11884557
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11884557
    reference: chr 1
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.595A>G
  hgvsp: ENSP00000234488.9:p.Lys199Glu
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.595A>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.529A>G
  hgvsp: ENSP00000365670.3:p.Lys177Glu
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.595A>G
  hgvsp: ENSP00000308367.6:p.Lys199Glu
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.595A>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.595A>G
  hgvsp: ENSP00000365679.3:p.Lys199Glu
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.595A>G
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2451
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35660
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys199Glu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-11884564-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11884564
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11884564
    reference: chr 1
allele count: 6
allele frequency: 4.945516888940176e-5
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.602G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.602G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.602G>A
  hgvsp: ENSP00000365679.3:p.Gly201Asp
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.602G>A
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.536G>A
  hgvsp: ENSP00000365670.3:p.Gly179Asp
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.602G>A
  hgvsp: ENSP00000234488.9:p.Gly201Asp
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.602G>A
  hgvsp: ENSP00000308367.6:p.Gly201Asp
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9719
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35762
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly201Asp
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

1-11884565-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11884565
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11884565
    reference: chr 1
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.603C>T
  hgvsp: ENST00000312413.6:c.603C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.603C>T
  hgvsp: ENST00000376496.3:c.603C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.537C>T
  hgvsp: ENST00000376487.3:c.537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.603C>T
  hgvsp: ENST00000346436.6:c.603C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.603C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.603C>T
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.603C>T
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9720
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly201Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

1-11884566-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11884566
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11884566
    reference: chr 1
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365679
  ensembl transcript: ENST00000376496
  gene symbol: CLCN6
  hgvsc: ENST00000376496.3:c.604C>G
  hgvsp: ENSP00000365679.3:p.Pro202Ala
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376491
  gene symbol: CLCN6
  hgvsc: ENST00000376491.3:n.604C>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000365670
  ensembl transcript: ENST00000376487
  gene symbol: CLCN6
  hgvsc: ENST00000376487.3:c.538C>G
  hgvsp: ENSP00000365670.3:p.Pro180Ala
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000308367
  ensembl transcript: ENST00000312413
  gene symbol: CLCN6
  hgvsc: ENST00000312413.6:c.604C>G
  hgvsp: ENSP00000308367.6:p.Pro202Ala
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011021
  ensembl protein: ENSP00000234488
  ensembl transcript: ENST00000346436
  gene symbol: CLCN6
  hgvsc: ENST00000346436.6:c.604C>G
  hgvsp: ENSP00000234488.9:p.Pro202Ala
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376490
  gene symbol: CLCN6
  hgvsc: ENST00000376490.3:n.604C>G
  variant of: http://identifiers.org/hgnc/2024
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011021
  ensembl transcript: ENST00000376492
  gene symbol: CLCN6
  hgvsc: ENST00000376492.3:n.604C>G
  variant of: http://identifiers.org/hgnc/2024
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro202Ala
num of homozygotes: 0
reference allele: C

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

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3549
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3084
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6733
bin: 6.25e1
variant carriers: 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: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.941e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.98e0

MQRankSum
type: SiteQuality
SIO_000300: 3.46e-1

FS
type: SiteQuality
SIO_000300: 2.955e0

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.15e-1

DP
type: SiteQuality
SIO_000300: 2.878954e6

QD
type: SiteQuality
SIO_000300: 1.228e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 1956
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.879193e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

FS
type: SiteQuality
SIO_000300: 1.559e0

MQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 1.346e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.81e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
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SIO_000300: 1.32e0

DP
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.65e-1

QD
type: SiteQuality
SIO_000300: 2.648e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.64e-1

FS
type: SiteQuality
SIO_000300: 1.247e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.880803e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.798e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.079e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

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

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

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

South Asian
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allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.399e1

FS
type: SiteQuality
SIO_000300: 2.0717e1

DP
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.877e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1957
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

East Asian
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.883675e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

FS
type: SiteQuality
SIO_000300: 5.252e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
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: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.277e0

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

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

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

Latino
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num of homozygotes: 0

East Asian
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allele frequency: 6.933210076265311e-4
allele num: 8654
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.311e0

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

Latino
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allele num: 11578
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

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

East Asian
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num of homozygotes: 0

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

European (Finnish)
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South Asian
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allele num: 16512
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European (Non-Finnish)
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Other
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ReadPosRankSum
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QD
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MQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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VQSLOD
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MQ
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BaseQRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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allele num: 8654
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South Asian
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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MQ
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SIO_000300: 5.973e1

QD
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FS
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.159999999999999e-1

InbreedingCoeff
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BaseQRankSum
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SIO_000300: -1.591e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 4.495863805299125e-5
allele num: 66728
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
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allele frequency: 4.239341085271318e-4
allele num: 16512
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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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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ClippingRankSum
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FS
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BaseQRankSum
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DP
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

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

East Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 66730
num of homozygotes: 0

South Asian
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Other
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VQSLOD
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MQRankSum
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ClippingRankSum
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QD
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FS
type: SiteQuality
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BaseQRankSum
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DP
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.502e1

InbreedingCoeff
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SIO_000300: 9.8e-3

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 5
allele frequency: 4.318535152876144e-4
allele num: 11578
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

Other
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allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.22e0

QD
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 3.4e-3

DP
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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African
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South Asian
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Other
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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DP
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MQ
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VQSLOD
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FS
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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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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East Asian
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VQSLOD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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DP
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ReadPosRankSum
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QD
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66734
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African
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East Asian
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South Asian
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Latino
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European (Finnish)
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Other
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 2.461e0

DP
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SIO_000300: 2.885295e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.679999999999999e-1

VQSLOD
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SIO_000300: 2.67e0

QD
type: SiteQuality
SIO_000300: 1.249e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 37410
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

QD
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VQSLOD
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SIO_000300: 1.4e0

InbreedingCoeff
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SIO_000300: 0.0e0

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.907e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

DP
type: SiteQuality
SIO_000300: 2.884091e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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DP
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InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 1.01e-1

ClippingRankSum
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SIO_000300: -3.98e-1

QD
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ReadPosRankSum
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MQ
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 2.465e0

VQSLOD
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SIO_000300: 1.4e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

African
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allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
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SIO_000300: 2.798e0

DP
type: SiteQuality
SIO_000300: 2.883947e6

MQ
type: SiteQuality
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QD
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VQSLOD
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.115e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.878e1

QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: -2.546e0

FS
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InbreedingCoeff
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SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.883899e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.609e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

GenotypeQuality
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variant carriers: 0

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

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

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

East Asian
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allele frequency: 0.0e0
allele num: 8654
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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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.49265719594797e-5
allele num: 66732
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.152e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.45e-1

DP
type: SiteQuality
SIO_000300: 2.883843e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 54

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 52
allele frequency: 6.010171058714748e-3
allele num: 8652
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

African
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Other
type: Population
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MQRankSum
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BaseQRankSum
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QD
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10406
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

East Asian
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ReadPosRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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MQ
type: SiteQuality
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Other
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num of homozygotes: 0

East Asian
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allele num: 8654
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South Asian
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European (Non-Finnish)
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European (Finnish)
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QD
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DP
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FS
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQ
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

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

Latino
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num of homozygotes: 0

East Asian
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498486528606108e-5
allele num: 66734
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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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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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DP
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QD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 908
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Latino
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allele frequency: 0.0e0
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African
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

MQ
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -9.31e-1

MQRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele num: 66734
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African
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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Other
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ReadPosRankSum
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BaseQRankSum
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DP
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MQ
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ClippingRankSum
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FS
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VQSLOD
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QD
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MQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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QD
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FS
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DP
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.39e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16512
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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African
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Latino
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East Asian
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InbreedingCoeff
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BaseQRankSum
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DP
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ReadPosRankSum
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MQRankSum
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FS
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MQ
type: SiteQuality
SIO_000300: 5.923e1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.81e-1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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 count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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num of homozygotes: 0

South Asian
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ClippingRankSum
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SIO_000300: 2.33e-1

DP
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FS
type: SiteQuality
SIO_000300: 6.687e0

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
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QD
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.916e1

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

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

African
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allele frequency: 0.0e0
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South Asian
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allele num: 16512
num of homozygotes: 0

East Asian
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European (Non-Finnish)
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European (Finnish)
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num of homozygotes: 0

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

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

South Asian
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Other
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num of homozygotes: 0

East Asian
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African
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Latino
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European (Non-Finnish)
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allele num: 66712
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

Latino
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num of homozygotes: 0

African
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allele num: 10406
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European (Non-Finnish)
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European (Finnish)
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Other
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South Asian
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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VQSLOD
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FS
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QD
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BaseQRankSum
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ReadPosRankSum
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DP
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MQ
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Other
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Latino
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num of homozygotes: 0

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

African
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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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Other
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South Asian
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BaseQRankSum
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VQSLOD
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SIO_000300: 8.83e-1

FS
type: SiteQuality
SIO_000300: 1.104e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.394e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.03e-1

DP
type: SiteQuality
SIO_000300: 2.8772e6

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

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3013
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1573
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1945
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3084
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2833
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.006e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.269e-1

DP
type: SiteQuality
SIO_000300: 2.876217e6

QD
type: SiteQuality
SIO_000300: 1.592e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

GenotypeQuality
all individuals: 2984
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1564
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 8
allele frequency: 4.865588127964968e-4
allele num: 16442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.875427e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.311e0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.432e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-1

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

GenotypeQuality
all individuals: 112
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6406
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2828
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1559
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3084
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37381
bin: 9.75e1
variant carriers: 2

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.5e-1

DP
type: SiteQuality
SIO_000300: 2.874684e6

QD
type: SiteQuality
SIO_000300: 1.26e1

VQSLOD
type: SiteQuality
SIO_000300: -6.682e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

MQ
type: SiteQuality
SIO_000300: 5.873e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.836e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.49e-1

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3551
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1552
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1942
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37381
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3080
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 2.871846e6

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

FS
type: SiteQuality
SIO_000300: 1.786e0

QD
type: SiteQuality
SIO_000300: 1.217e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
all individuals: 323
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3550
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2902
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37386
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1941
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6087
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1548
bin: 7.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 8
allele frequency: 1.200768491834774e-4
allele num: 66624
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

QD
type: SiteQuality
SIO_000300: 1.392e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.76e0

DP
type: SiteQuality
SIO_000300: 2.869908e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

MQ
type: SiteQuality
SIO_000300: 6.007e1

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

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2794
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 415
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3548
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2837
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 1.218769043266301e-4
allele num: 16410
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 2.866564e6

MQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-1

FS
type: SiteQuality
SIO_000300: 1.703e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

QD
type: SiteQuality
SIO_000300: 1.75e1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5064
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3544
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2736
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2784
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.457e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 5.841e1

FS
type: SiteQuality
SIO_000300: 3.808e0

VQSLOD
type: SiteQuality
SIO_000300: -2.274e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.749e0

QD
type: SiteQuality
SIO_000300: 9.720000000000001e0

DP
type: SiteQuality
SIO_000300: 2.860066e6

GenotypeQuality
all individuals: 521
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3541
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2419
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2756
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502945773716484e-5
allele num: 66536
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.843884449907806e-4
allele num: 16270
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.9571e1

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-1

DP
type: SiteQuality
SIO_000300: 2.851336e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.974e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.13e-1

QD
type: SiteQuality
SIO_000300: 9.130000000000001e0

GenotypeQuality
all individuals: 618
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3535
bin: 9.25e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3492
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37419
bin: 9.75e1
variant carriers: 152

Latino
type: Population
allele count: 8
allele frequency: 6.912044237083118e-4
allele num: 11574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

African
type: Population
allele count: 145
allele frequency: 1.393962699480869e-2
allele num: 10402
num of homozygotes: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502855425308085e-5
allele num: 66540
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.544e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 4.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

DP
type: SiteQuality
SIO_000300: 2.851587e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.54e-1

QD
type: SiteQuality
SIO_000300: 1.313e1

GenotypeQuality
all individuals: 1533
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 7.5e0
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GenotypeQuality
all individuals: 747
bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1335
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variant carriers: 0

GenotypeQuality
all individuals: 484
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GenotypeQuality
all individuals: 1226
bin: 6.75e1
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GenotypeQuality
all individuals: 777
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.366993505666624e-5
allele num: 15706
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.556e0

VQSLOD
type: SiteQuality
SIO_000300: -2.364e0

MQRankSum
type: SiteQuality
SIO_000300: 2.46e0

DP
type: SiteQuality
SIO_000300: 3.135266e6

QD
type: SiteQuality
SIO_000300: 8.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.58e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeQuality
all individuals: 119
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2221
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 3.25e1
variant carriers: 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: 15764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.691800736576855e-5
allele num: 10318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66276
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.362e0

MQ
type: SiteQuality
SIO_000300: 5.653e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 3.137347e6

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.988e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

QD
type: SiteQuality
SIO_000300: 1.303e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.081e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 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: 2
allele frequency: 3.018594542381067e-5
allele num: 66256
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.938735944164405e-4
allele num: 10316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15664
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: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.541e0

DP
type: SiteQuality
SIO_000300: 3.138001e6

QD
type: SiteQuality
SIO_000300: 9.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.044e0

FS
type: SiteQuality
SIO_000300: 5.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
all individuals: 1163
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 703
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 339
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508477644361311e-5
allele num: 66292
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.907540220973057e-4
allele num: 10318
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15758
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-1

QD
type: SiteQuality
SIO_000300: 1.051e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 3.140093e6

FS
type: SiteQuality
SIO_000300: 9.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

GenotypeQuality
all individuals: 794
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1352
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variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.901863826550019e-4
allele num: 15774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66304
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.31e0

DP
type: SiteQuality
SIO_000300: 3.142758e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

FS
type: SiteQuality
SIO_000300: 5.161e0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

GenotypeQuality
all individuals: 1358
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1527
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
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variant carriers: 0

GenotypeQuality
all individuals: 1361
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GenotypeQuality
all individuals: 46463
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 804
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GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15778
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66312
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.11e0

FS
type: SiteQuality
SIO_000300: 9.266999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -7.138e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.143672e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.102e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 410
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.524750384603782e-5
allele num: 66302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15746
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.146427e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.075e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.254e0

MQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 3.919e0

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 15878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66368
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: 1
allele frequency: 9.676795045480937e-5
allele num: 10334
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.218e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.95e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.155021e6

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-1

MQ
type: SiteQuality
SIO_000300: 5.642e1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15964
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66398
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.07e-1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 540
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15964
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66398
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.663703131039814e-5
allele num: 10348
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.986000000000001e0

DP
type: SiteQuality
SIO_000300: 3.163088e6

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4628
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505298651252408e-5
allele num: 66432
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 3.165534e6

VQSLOD
type: SiteQuality
SIO_000300: 4.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.245e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.99e-1

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1473
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66466
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.220452848967405e-5
allele num: 16076
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.168e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.52e-1

DP
type: SiteQuality
SIO_000300: 3.171438e6

QD
type: SiteQuality
SIO_000300: 5.79e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1717
bin: 6.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16150
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 3.177044e6

FS
type: SiteQuality
SIO_000300: 2.058e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.053e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-2

QD
type: SiteQuality
SIO_000300: 1.272e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1540
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16202
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503036132988637e-5
allele num: 66532
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.001e0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.407e0

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-1

QD
type: SiteQuality
SIO_000300: 1.526e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

DP
type: SiteQuality
SIO_000300: 3.17991e6

MQ
type: SiteQuality
SIO_000300: 5.92e1

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4916
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502448991856726e-5
allele num: 66558
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16236
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.918e1

DP
type: SiteQuality
SIO_000300: 3.181865e6

QD
type: SiteQuality
SIO_000300: 1.424e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.771e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.06e-1

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

GenotypeQuality
all individuals: 46567
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 1807
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003093185981561e-5
allele num: 66598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16322
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.1851e6

QD
type: SiteQuality
SIO_000300: 1.342e1

VQSLOD
type: SiteQuality
SIO_000300: 8.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 4.112e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.951e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.84e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.133e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

FS
type: SiteQuality
SIO_000300: 5.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.5e-1

QD
type: SiteQuality
SIO_000300: 1.27e1

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e-1

DP
type: SiteQuality
SIO_000300: 3.18735e6

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1014
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1602
bin: 8.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001560811622043e-5
allele num: 66632
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

FS
type: SiteQuality
SIO_000300: 5.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

DP
type: SiteQuality
SIO_000300: 3.18735e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.133e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.27e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.5e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
all individuals: 46586
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1011
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.61e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 3.188045e6

FS
type: SiteQuality
SIO_000300: 7.339e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.921e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.805e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.41e-1

GenotypeQuality
all individuals: 3
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variant carriers: 3

GenotypeQuality
all individuals: 352
bin: 9.25e1
variant carriers: 352

GenotypeQuality
all individuals: 130
bin: 6.75e1
variant carriers: 130

GenotypeQuality
all individuals: 278
bin: 8.25e1
variant carriers: 278

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 163

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 44

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
all individuals: 85
bin: 7.25e1
variant carriers: 85

GenotypeQuality
all individuals: 66
bin: 6.25e1
variant carriers: 66

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

Latino
type: Population
allele count: 11573
allele frequency: 9.995681464847124e-1
allele num: 11578
num of homozygotes: 5784

African
type: Population
allele count: 10399
allele frequency: 9.997115939242454e-1
allele num: 10402
num of homozygotes: 5198

Other
type: Population
allele count: 907
allele frequency: 9.98898678414097e-1
allele num: 908
num of homozygotes: 453

East Asian
type: Population
allele count: 8654
allele frequency: 1.0e0
allele num: 8654
num of homozygotes: 4327

European (Non-Finnish)
type: Population
allele count: 66670
allele frequency: 9.989810902334502e-1
allele num: 66738
num of homozygotes: 33301

European (Finnish)
type: Population
allele count: 6614
allele frequency: 1.0e0
allele num: 6614
num of homozygotes: 3307

South Asian
type: Population
allele count: 16500
allele frequency: 1.0e0
allele num: 16500
num of homozygotes: 8250

BaseQRankSum
type: SiteQuality
SIO_000300: 6.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

QD
type: SiteQuality
SIO_000300: 3.421e1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 4.641321e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e-1

GenotypeQuality
all individuals: 1092
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6476
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1628
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9721
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
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: 16478
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: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
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: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: 5.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 1.963825e6

QD
type: SiteQuality
SIO_000300: 8.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 690
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6455
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2685
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1618
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.842e0

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.13e1

DP
type: SiteQuality
SIO_000300: 1.963049e6

GenotypeQuality
all individuals: 2683
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6449
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 35757
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1618
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.382e0

FS
type: SiteQuality
SIO_000300: 6.73e-1

QD
type: SiteQuality
SIO_000300: 2.673e1

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 1.962826e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0