1-6185225-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185225
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185225
    reference: chr 1
allele count: 2
allele frequency: 2.839618355293048e-5
allele num: 70432
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4329G>A
  hgvsp: ENST00000262450.3:c.4329G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3418-3592G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*899G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2476G>A
  hgvsp: ENST00000462991.1:c.2476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.900G>A
  hgvsp: ENST00000378021.1:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8985
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25383
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro1443Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

1-6185228-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185228
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185228
    reference: chr 1
allele count: 2
allele frequency: 2.751864388122953e-5
allele num: 72678
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4326C>T
  hgvsp: ENST00000262450.3:c.4326C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3418-3595C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2473C>T
  hgvsp: ENST00000462991.1:c.2473C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.897C>T
  hgvsp: ENST00000378021.1:c.897C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*896C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16086
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22786
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8936
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2960
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 574
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genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro1442Pro
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

1-6185236-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185236
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185236
    reference: chr 1
allele count: 1
allele frequency: 1.315304887672963e-5
allele num: 76028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*888G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4318G>A
  hgvsp: ENSP00000262450.3:p.Gly1440Ser
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.889G>A
  hgvsp: ENSP00000367260.1:p.Gly297Ser
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3418-3603G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2465G>A
  hgvsp: ENSP00000466706.1:p.Gly823Ser
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9098
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21222
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5700
  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 23840
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly1440Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

1-6185245-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185245
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185245
    reference: chr 1
allele count: 2
allele frequency: 2.512184092850324e-5
allele num: 79612
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4309A>T
  hgvsp: ENSP00000262450.3:p.Met1437Leu
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3418-3612A>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.880A>T
  hgvsp: ENSP00000367260.1:p.Met294Leu
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*879A>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2456A>T
  hgvsp: ENSP00000466706.1:p.Met820Leu
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18365
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19732
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2898
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met1437Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

1-6185250-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185250
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185250
    reference: chr 1
allele count: 1
allele frequency: 1.234537418829165e-5
allele num: 81002
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4304C>T
  hgvsp: ENSP00000262450.3:p.Ala1435Val
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*874C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3418-3617C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2451C>T
  hgvsp: ENSP00000466706.1:p.Ala818Val
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.875C>T
  hgvsp: ENSP00000367260.1:p.Ala292Val
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8868
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2660
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22017
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22216
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 425
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala1435Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-6185252-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185252
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185252
    reference: chr 1
allele count: 3
allele frequency: 3.686318842004374e-5
allele num: 81382
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4302C>T
  hgvsp: ENST00000262450.3:c.4302C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*872C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.873C>T
  hgvsp: ENST00000378021.1:c.873C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2449C>T
  hgvsp: ENST00000462991.1:c.2449C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3418-3619C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19375
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2670
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1294
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 512
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
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genotype quality: GenotypeQuality
  all individuals: 2828
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genotype quality: GenotypeQuality
  all individuals: 791
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genotype quality: GenotypeQuality
  all individuals: 389
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21467
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn1434Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

1-6185268-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185268
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185268
    reference: chr 1
allele count: 3
allele frequency: 3.513621137944766e-5
allele num: 85382
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4286G>A
  hgvsp: ENSP00000262450.3:p.Arg1429Gln
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*856G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2433G>A
  hgvsp: ENSP00000466706.1:p.Arg812Gln
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.857G>A
  hgvsp: ENSP00000367260.1:p.Arg286Gln
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3418-3635G>A
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9000
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6725
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16832
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21266
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 922
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg1429Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

1-6185270-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185270
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185270
    reference: chr 1
allele count: 1
allele frequency: 1.160577503365675e-5
allele num: 86164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2431G>A
  hgvsp: ENST00000462991.1:c.2431G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3418-3637G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*854G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.855G>A
  hgvsp: ENST00000378021.1:c.855G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4284G>A
  hgvsp: ENST00000262450.3:c.4284G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1606
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 6818
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21777
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln1428Gln
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

1-6185275-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185275
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185275
    reference: chr 1
allele count: 1
allele frequency: 1.148738684923954e-5
allele num: 87052
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4279C>T
  hgvsp: ENSP00000262450.3:p.Arg1427Ter
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2426C>T
  hgvsp: ENSP00000466706.1:p.Arg810Ter
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*849C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3418-3642C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.850C>T
  hgvsp: ENSP00000367260.1:p.Arg284Ter
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16044
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9021
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2460
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19969
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg1427Ter
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

1-6185279-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185279
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185279
    reference: chr 1
allele count: 2
allele frequency: 2.27004449287206e-5
allele num: 88104
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4275T>C
  hgvsp: ENST00000262450.3:c.4275T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2422T>C
  hgvsp: ENST00000462991.1:c.2422T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*845T>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.846T>C
  hgvsp: ENST00000378021.1:c.846T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3418-3646T>C
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15667
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23044
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19887
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn1425Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

1-6185299-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185299
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185299
    reference: chr 1
allele count: 12
allele frequency: 1.357159013797783e-4
allele num: 88420
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.832-6G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2408-6G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4261-6G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*831-6G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3418-3666G>A
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15028
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12901
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6529
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19731
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22276
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 4.75e1
  variant carriers: 1
hgvs: c.4261-6G>A
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

1-6185300-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185300
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185300
    reference: chr 1
allele count: 2
allele frequency: 2.256775969849473e-5
allele num: 88622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.832-7C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4261-7C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3418-3667C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2408-7C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*831-7C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12915
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21612
  bin: 2.25e1
  variant carriers: 0
hgvs: c.4261-7C>T
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-6185305-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185305
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185305
    reference: chr 1
allele count: 1
allele frequency: 1.130377772251486e-5
allele num: 88466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.832-12C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4261-12C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2408-12C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3418-3672C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*831-12C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3809
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

1-6185307-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185307
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185307
    reference: chr 1
allele count: 1
allele frequency: 1.130428884718862e-5
allele num: 88462
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2408-14C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4261-14C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3418-3674C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*831-14C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.832-14C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14979
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3892
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

1-6185308-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185308
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185308
    reference: chr 1
allele count: 6
allele frequency: 6.814155271884796e-5
allele num: 88052
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4261-15G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3418-3675G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*831-15G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.832-15G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2408-15G>A
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15072
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6258
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17121
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3873
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

1-6185309-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185309
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185309
    reference: chr 1
allele count: 11
allele frequency: 1.249205051330971e-4
allele num: 88056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.832-16C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4261-16C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2408-16C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*831-16C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3418-3676C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14994
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15741
  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 4
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 22833
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD

1-6185311-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185311
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185311
    reference: chr 1
allele count: 1
allele frequency: 1.138252100075125e-5
allele num: 87854
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4261-18C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*831-18C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2408-18C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.832-18C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3418-3678C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16271
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1441
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genotype depth: GenotypeDepth
  all individuals: 30
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genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 6
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genotype depth: GenotypeDepth
  all individuals: 15533
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1711
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 746
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genotype quality: GenotypeQuality
  all individuals: 72
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genotype quality: GenotypeQuality
  all individuals: 4356
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genotype quality: GenotypeQuality
  all individuals: 23057
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4433
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 407
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genotype quality: GenotypeQuality
  all individuals: 458
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genotype quality: GenotypeQuality
  all individuals: 168
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genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

1-6185315-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185315
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185315
    reference: chr 1
allele count: 1
allele frequency: 1.142857142857143e-5
allele num: 87500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3418-3682C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4261-22C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.832-22C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2408-22C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*831-22C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14977
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
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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: 5421
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14497
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16984
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 375
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genotype quality: GenotypeQuality
  all individuals: 1809
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 167
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genotype quality: GenotypeQuality
  all individuals: 4829
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2318
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 520
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genotype quality: GenotypeQuality
  all individuals: 23386
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  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

1-6185321-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185321
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185321
    reference: chr 1
allele count: 1
allele frequency: 1.155989179941276e-5
allele num: 86506
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2408-28C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.832-28C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*831-28C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3418-3688C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4261-28C>A
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15021
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 18397
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 770
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  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-6185327-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185327
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185327
    reference: chr 1
allele count: 3
allele frequency: 3.506721215663355e-5
allele num: 85550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2408-34C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4261-34C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*831-34C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3418-3694C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.832-34C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18733
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6790
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-6185328-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185328
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185328
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 85670
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3418-3695T>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2408-35T>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.832-35T>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*831-35T>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4261-35T>C
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18775
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15254
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
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genotype depth: GenotypeDepth
  all individuals: 844
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
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genotype depth: GenotypeDepth
  all individuals: 240
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6797
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genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 419
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genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4032
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22940
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

1-6185336-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185336
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185336
    reference: chr 1
allele count: 1
allele frequency: 1.208692919476878e-5
allele num: 82734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3418-3703C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*831-43C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2408-43C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.832-43C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4261-43C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16199
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18004
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 165
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 253
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genotype quality: GenotypeQuality
  all individuals: 1024
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genotype quality: GenotypeQuality
  all individuals: 1953
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 20234
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genotype quality: GenotypeQuality
  all individuals: 2683
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genotype quality: GenotypeQuality
  all individuals: 72
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genotype quality: GenotypeQuality
  all individuals: 3461
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

1-6185340-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185340
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185340
    reference: chr 1
allele count: 2
allele frequency: 2.442300647209672e-5
allele num: 81890
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*831-47C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4261-47C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3418-3707C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.832-47C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2408-47C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17936
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16377
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2400
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

1-6185341-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185341
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185341
    reference: chr 1
allele count: 1
allele frequency: 1.220375387469186e-5
allele num: 81942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.832-48C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4261-48C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*831-48C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3418-3708C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2408-48C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 289
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

1-6185345-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185345
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185345
    reference: chr 1
allele count: 1
allele frequency: 1.287233220914965e-5
allele num: 77686
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*831-52A>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3418-3712A>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2408-52A>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4261-52A>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.832-52A>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12237
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3553
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5406
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15041
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7337
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2837
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5623
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

1-6185535-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185535
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185535
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 21698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.831+49C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2407+49C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*830+49C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3565C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4260+49C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32379
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23039
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6894
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6696
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5977
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

1-6185536-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185536
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185536
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 21580
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.831+48G>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2407+48G>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*830+48G>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4260+48G>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3564G>C
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14157
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32384
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6894
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-6185538-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185538
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185538
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 21742
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4260+46C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*830+46C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2407+46C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3562C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.831+46C>A
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32386
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6771
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4609
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24490
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5851
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQ

1-6185541-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185541
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185541
    reference: chr 1
allele count: 2
allele frequency: 9.129085265656382e-5
allele num: 21908
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4260+43C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.831+43C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*830+43C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2407+43C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3559C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4238
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25624
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7480
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3524
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

1-6185564-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185564
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185564
    reference: chr 1
allele count: 13
allele frequency: 5.557930739632322e-4
allele num: 23390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*830+20G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.831+20G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4260+20G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3536G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2407+20G>A
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23997
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23599
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21748
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2781
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

1-6185567-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185567
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185567
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 24270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.831+17C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*830+17C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3533C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2407+17C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4260+17C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21659
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25855
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21760
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP

1-6185573-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185573
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185573
    reference: chr 1
allele count: 1
allele frequency: 3.932672644329086e-5
allele num: 25428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*830+11T>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2407+11T>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.831+11T>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4260+11T>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3527T>A
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17946
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25896
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16915
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

1-6185581-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185581
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185581
    reference: chr 1
allele count: 2
allele frequency: 7.156147130385001e-5
allele num: 27948
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4260+3G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2407+3G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*830+3G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.831+3G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3519G>A
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13523
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29886
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12885
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 2.75e1
  variant carriers: 0
hgvs: c.4260+3G>A
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-6185587-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185587
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185587
    reference: chr 1
allele count: 1
allele frequency: 3.301637612255679e-5
allele num: 30288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2404C>T
  hgvsp: ENST00000462991.1:c.2404C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4257C>T
  hgvsp: ENST00000262450.3:c.4257C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3513C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.828C>T
  hgvsp: ENST00000378021.1:c.828C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*827C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9933
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32869
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6084
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile1419Ile
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

1-6185591-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185591
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185591
    reference: chr 1
allele count: 3
allele frequency: 9.316191540898081e-5
allele num: 32202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.824A>G
  hgvsp: ENSP00000367260.1:p.Asn275Ser
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4253A>G
  hgvsp: ENSP00000262450.3:p.Asn1418Ser
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3509A>G
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*823A>G
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2400A>G
  hgvsp: ENSP00000466706.1:p.Asn801Ser
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35834
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34540
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn1418Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ

1-6185598-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185598
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185598
    reference: chr 1
allele count: 1
allele frequency: 2.844788347746928e-5
allele num: 35152
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4246G>A
  hgvsp: ENSP00000262450.3:p.Gly1416Ser
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.817G>A
  hgvsp: ENSP00000367260.1:p.Gly273Ser
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*260G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3502G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2393G>A
  hgvsp: ENSP00000466706.1:p.Gly799Ser
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*816G>A
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36013
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6500
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34479
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6483
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly1416Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

1-6185603-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185603
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185603
    reference: chr 1
allele count: 1
allele frequency: 2.68889486421081e-5
allele num: 37190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.812G>A
  hgvsp: ENSP00000367260.1:p.Arg271Gln
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*811G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2388G>A
  hgvsp: ENSP00000466706.1:p.Arg797Gln
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3497G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*255G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4241G>A
  hgvsp: ENSP00000262450.3:p.Arg1414Gln
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34720
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5566
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg1414Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-6185608-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185608
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185608
    reference: chr 1
allele count: 1704
allele frequency: 3.952495824828354e-2
allele num: 43112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*806C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.807C>T
  hgvsp: ENST00000378021.1:c.807C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4236C>T
  hgvsp: ENST00000262450.3:c.4236C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2383C>T
  hgvsp: ENST00000462991.1:c.2383C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*250C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3492C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 1.75e1
  variant carriers: 399
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 2.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 6262
  bin: 1.25e1
  variant carriers: 797
genotype depth: GenotypeDepth
  all individuals: 34206
  bin: 7.5e0
  variant carriers: 478
genotype depth: GenotypeDepth
  all individuals: 7821
  bin: 2.25e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 2.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 3.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 7.75e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 6.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 2.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 3098
  bin: 9.75e1
  variant carriers: 1531
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 1.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 1.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 5.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 33081
  bin: 2.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.25e1
  variant carriers: 71
hgvs: p.Leu1412Leu
num of homozygotes: 19
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-6185614-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185614
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185614
    reference: chr 1
allele count: 3
allele frequency: 6.572605380772938e-5
allele num: 45644
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4230G>A
  hgvsp: ENST00000262450.3:c.4230G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3486G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.801G>A
  hgvsp: ENST00000378021.1:c.801G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*244G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*800G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2377G>A
  hgvsp: ENST00000462991.1:c.2377G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33394
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8911
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3854
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro1410Pro
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

1-6185635-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185635
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185635
    reference: chr 1
allele count: 2
allele frequency: 3.613369467028003e-5
allele num: 55350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2356C>T
  hgvsp: ENST00000462991.1:c.2356C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4209C>T
  hgvsp: ENST00000262450.3:c.4209C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*779C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*223C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.780C>T
  hgvsp: ENST00000378021.1:c.780C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3465C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8610
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30525
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp1403Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-6185636-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185636
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185636
    reference: chr 1
allele count: 1
allele frequency: 1.791472590469366e-5
allele num: 55820
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3464A>G
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2355A>G
  hgvsp: ENSP00000466706.1:p.Asp786Gly
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*778A>G
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.779A>G
  hgvsp: ENSP00000367260.1:p.Asp260Gly
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4208A>G
  hgvsp: ENSP00000262450.3:p.Asp1403Gly
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*222A>G
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2997
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2655
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9794
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp1403Gly
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/1-6185682-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185682
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185682
    reference: chr 1
allele count: 1
allele frequency: 1.090322299271665e-5
allele num: 91716
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3418T>G
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.743-10T>G
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*742-10T>G
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4172-10T>G
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*186-10T>G
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2319-10T>G
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24309
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6960
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4008
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

1-6185682-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185682
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185682
    reference: chr 1
allele count: 1
allele frequency: 1.090322299271665e-5
allele num: 91716
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3418T>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*742-10T>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2319-10T>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4172-10T>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.743-10T>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*186-10T>C
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6960
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4008
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22948
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-6185687-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185687
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185687
    reference: chr 1
allele count: 16
allele frequency: 1.615019683052387e-4
allele num: 99070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3413C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*742-15C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2319-15C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.743-15C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4172-15C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*186-15C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8486
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28447
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 382
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28344
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11886
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-6185694-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185694
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185694
    reference: chr 1
allele count: 5
allele frequency: 4.740954259273307e-5
allele num: 105464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*186-22A>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2319-22A>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.743-22A>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4172-22A>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*742-22A>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3406A>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31985
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 729
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genotype depth: GenotypeDepth
  all individuals: 376
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genotype depth: GenotypeDepth
  all individuals: 185
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genotype depth: GenotypeDepth
  all individuals: 100
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 197
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genotype quality: GenotypeQuality
  all individuals: 5542
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
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genotype quality: GenotypeQuality
  all individuals: 350
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genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

1-6185696-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185696
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185696
    reference: chr 1
allele count: 1
allele frequency: 9.387555855957342e-6
allele num: 106524
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2319-24G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.743-24G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4172-24G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*742-24G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*186-24G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3404G>A
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6988
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 963
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

1-6185704-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185704
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185704
    reference: chr 1
allele count: 139
allele frequency: 1.256235991613043e-3
allele num: 110648
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4172-32C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*742-32C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3396C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.743-32C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*186-32C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2319-32C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 25
genotype depth: GenotypeDepth
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  variant carriers: 21
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 137
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 1
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD

1-6185706-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185706
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185706
    reference: chr 1
allele count: 10
allele frequency: 8.977466558937069e-5
allele num: 111390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*742-34C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2319-34C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*186-34C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4172-34C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.743-34C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3394C>A
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34076
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10996
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 881
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP

1-6185709-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185709
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185709
    reference: chr 1
allele count: 1
allele frequency: 8.880048307462793e-6
allele num: 112612
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*186-37G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.743-37G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3391G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*742-37G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2319-37G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4172-37G>A
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
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genotype depth: GenotypeDepth
  all individuals: 99
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
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genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 33822
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genotype quality: GenotypeQuality
  all individuals: 707
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 152
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genotype quality: GenotypeQuality
  all individuals: 4723
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

1-6185722-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185722
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185722
    reference: chr 1
allele count: 1
allele frequency: 8.54627809588924e-6
allele num: 117010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.743-50C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*742-50C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4172-50C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3378C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2319-50C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*186-50C>A
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12429
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 399
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 526
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 35875
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

1-6185781-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185781
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185781
    reference: chr 1
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*185+45C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4171+45C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.742+45C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3319C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*741+45C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2318+45C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1929
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3170
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6151
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-6185783-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185783
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185782
    reference: chr 1
allele count: 2
allele frequency: 1.649321304283287e-5
allele num: 121262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*741+42delT
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3316delT
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2318+42delT
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4171+42delT
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.742+42delT
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*185+42delT
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5252
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: CA
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD

1-6185792-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185792
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185792
    reference: chr 1
allele count: 211
allele frequency: 1.739460190268916e-3
allele num: 121302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2318+34T>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*741+34T>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*185+34T>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4171+34T>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3308T>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.742+34T>C
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5409
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 9.75e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3600
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3756
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 3158
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

1-6185796-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185796
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185796
    reference: chr 1
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4171+30C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2318+30C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3304C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.742+30C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*185+30C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*741+30C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2048
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

1-6185797-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185797
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185797
    reference: chr 1
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3303A>G
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.742+29A>G
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*185+29A>G
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4171+29A>G
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*741+29A>G
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2318+29A>G
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6654
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

1-6185799-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185799
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185799
    reference: chr 1
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*741+27C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4171+27C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2318+27C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*185+27C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.742+27C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3301C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6729
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-6185817-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185817
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185817
    reference: chr 1
allele count: 4
allele frequency: 3.296793867963405e-5
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.742+9C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*741+9C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2318+9C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4171+9C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*185+9C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3283C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41496
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

1-6185836-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185836
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185836
    reference: chr 1
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*175G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.732G>A
  hgvsp: ENST00000378021.1:c.732G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*731G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3264G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2308G>A
  hgvsp: ENST00000462991.1:c.2308G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4161G>A
  hgvsp: ENST00000262450.3:c.4161G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5424
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7263
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 9.25e1
  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: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro1387Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

1-6185837-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185837
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185837
    reference: chr 1
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4160C>T
  hgvsp: ENSP00000262450.3:p.Pro1387Leu
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*730C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2307C>T
  hgvsp: ENSP00000466706.1:p.Pro770Leu
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3263C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.731C>T
  hgvsp: ENSP00000367260.1:p.Pro244Leu
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*174C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2025
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro1387Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

1-6185848-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185848
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185848
    reference: chr 1
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*719T>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.720T>C
  hgvsp: ENST00000378021.1:c.720T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4149T>C
  hgvsp: ENST00000262450.3:c.4149T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2296T>C
  hgvsp: ENST00000462991.1:c.2296T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3252T>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*163T>C
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 2.25e1
  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: 115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7245
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe1383Phe
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

1-6185876-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185876
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185876
    reference: chr 1
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4121T>C
  hgvsp: ENSP00000262450.3:p.Ile1374Thr
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.692T>C
  hgvsp: ENSP00000367260.1:p.Ile231Thr
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*691T>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*135T>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2268T>C
  hgvsp: ENSP00000466706.1:p.Ile757Thr
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3224T>C
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile1374Thr
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-6185890-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185890
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185890
    reference: chr 1
allele count: 1
allele frequency: 8.257501940512956e-6
allele num: 121102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.678G>A
  hgvsp: ENST00000378021.1:c.678G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3210G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*677G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*121G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2254G>A
  hgvsp: ENST00000462991.1:c.2254G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4107G>A
  hgvsp: ENST00000262450.3:c.4107G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5263
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41479
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln1369Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

1-6185904-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185904
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185904
    reference: chr 1
allele count: 2
allele frequency: 1.655629139072848e-5
allele num: 120800
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4093C>G
  hgvsp: ENSP00000262450.3:p.Leu1365Val
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2240C>G
  hgvsp: ENSP00000466706.1:p.Leu748Val
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.664C>G
  hgvsp: ENSP00000367260.1:p.Leu222Val
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*107C>G
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3196C>G
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*663C>G
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2554
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu1365Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

1-6185904-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185904
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185904
    reference: chr 1
allele count: 1
allele frequency: 8.278145695364238e-6
allele num: 120800
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3196C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*663C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.664C>A
  hgvsp: ENSP00000367260.1:p.Leu222Ile
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*107C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4093C>A
  hgvsp: ENSP00000262450.3:p.Leu1365Ile
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2240C>A
  hgvsp: ENSP00000466706.1:p.Leu748Ile
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5804
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2554
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41405
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 3.25e1
  variant carriers: 1
hgvs: p.Leu1365Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-6185905-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185905
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185905
    reference: chr 1
allele count: 1
allele frequency: 8.289674381590291e-6
allele num: 120632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2239G>T
  hgvsp: ENSP00000466706.1:p.Glu747Asp
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.663G>T
  hgvsp: ENSP00000367260.1:p.Glu221Asp
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4092G>T
  hgvsp: ENSP00000262450.3:p.Glu1364Asp
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3195G>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*662G>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*106G>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41475
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu1364Asp
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

1-6185905-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185905
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185905
    reference: chr 1
allele count: 1
allele frequency: 8.289674381590291e-6
allele num: 120632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*662G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3195G>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.663G>A
  hgvsp: ENST00000378021.1:c.663G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2239G>A
  hgvsp: ENST00000462991.1:c.2239G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4092G>A
  hgvsp: ENST00000262450.3:c.4092G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*106G>A
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu1364Glu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

1-6185908-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185908
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185908
    reference: chr 1
allele count: 1
allele frequency: 8.75871492134674e-6
allele num: 114172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.660T>A
  hgvsp: ENSP00000367260.1:p.Asp220Glu
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4089T>A
  hgvsp: ENSP00000262450.3:p.Asp1363Glu
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*659T>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3192T>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2236T>A
  hgvsp: ENSP00000466706.1:p.Asp746Glu
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*103T>A
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5037
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40399
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp1363Glu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

1-6185909-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185909
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185909
    reference: chr 1
allele count: 1743
allele frequency: 1.669444284811218e-2
allele num: 104406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.659A>G
  hgvsp: ENSP00000367260.1:p.Asp220Gly
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*658A>G
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4088A>G
  hgvsp: ENSP00000262450.3:p.Asp1363Gly
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*102A>G
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3191A>G
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2235A>G
  hgvsp: ENSP00000466706.1:p.Asp746Gly
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 4.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 6.75e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 5.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 3.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 9.25e1
  variant carriers: 158
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 8.25e1
  variant carriers: 183
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 7.25e1
  variant carriers: 150
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 5.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 6.25e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 9.75e1
  variant carriers: 798
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 7.75e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 4.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 8.75e1
  variant carriers: 167
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 8.25e1
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 5.75e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 6.75e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 3.25e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 8.75e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 3.75e1
  variant carriers: 86
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 1.75e1
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 4.75e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 2.25e1
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.5e0
  variant carriers: 97
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 4.25e1
  variant carriers: 76
hgvs: p.Asp1363Gly
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

1-6185913-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185913
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185913
    reference: chr 1
allele count: 1
allele frequency: 8.264462809917356e-6
allele num: 121000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3187C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2231C>A
  hgvsp: ENSP00000466706.1:p.Gln745Lys
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*98C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*654C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4084C>A
  hgvsp: ENSP00000262450.3:p.Gln1362Lys
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.655C>A
  hgvsp: ENSP00000367260.1:p.Gln219Lys
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5278
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln1362Lys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum

1-6185928-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185928
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185928
    reference: chr 1
allele count: 1
allele frequency: 8.273214640280627e-6
allele num: 120872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2226-10C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*93-10C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*649-10C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4079-10C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3172C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.650-10C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

1-6185929-CCAGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185929
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185925
    reference: chr 1
allele count: 1
allele frequency: 8.273762245168123e-6
allele num: 120864
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*649-15_*649-12delTCTG
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3167_3417+3170delTCTG
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4079-15_4079-12delTCTG
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*93-15_*93-12delTCTG
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.650-15_650-12delTCTG
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2226-15_2226-12delTCTG
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43608
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: CCAGA
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

1-6185930-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185930
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185930
    reference: chr 1
allele count: 1
allele frequency: 8.273351534706709e-6
allele num: 120870
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.650-12G>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2226-12G>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*93-12G>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*649-12G>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3170G>C
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4079-12G>C
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5742
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum

1-6185932-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185932
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185932
    reference: chr 1
allele count: 1
allele frequency: 8.274720728175424e-6
allele num: 120850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*649-14C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000433676
  ensembl transcript: ENST00000496404
  gene symbol: CHD5
  hgvsc: ENST00000496404.1:c.3417+3168C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000468624
  ensembl transcript: ENST00000491020
  gene symbol: CHD5
  hgvsc: ENST00000491020.1:c.*93-14C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2226-14C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.650-14C>T
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4079-14C>T
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
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: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

1-6185932-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6185932
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6185932
    reference: chr 1
allele count: 4
allele frequency: 3.30988829127017e-5
allele num: 120850
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367238
  ensembl transcript: ENST00000377999
  gene symbol: CHD5
  hgvsc: ENST00000377999.1:c.*649-14C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000262450
  ensembl transcript: ENST00000262450
  gene symbol: CHD5
  hgvsc: ENST00000262450.3:c.4079-14C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000367260
  ensembl transcript: ENST00000378021
  gene symbol: CHD5
  hgvsc: ENST00000378021.1:c.650-14C>A
  variant of: http://identifiers.org/hgnc/16816
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116254
  ensembl protein: ENSP00000466706
  ensembl transcript: ENST00000462991
  gene symbol: CHD5
  hgvsc: ENST00000462991.1:c.2226-14C>A
  variant of: http://identifiers.org/hgnc/16816
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 1050
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2885
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 178
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.977848101265823e-4
allele num: 5056
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38898
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2674
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

DP
type: SiteQuality
SIO_000300: 9.02342e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.78e-1

FS
type: SiteQuality
SIO_000300: 3.143e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.62e0

QD
type: SiteQuality
SIO_000300: 3.19e0

GenotypeQuality
all individuals: 1949
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2882
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18626
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.958104021022361e-5
allele num: 40338
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

DP
type: SiteQuality
SIO_000300: 9.15931e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.647e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.317e-1

FS
type: SiteQuality
SIO_000300: 2.47e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

GenotypeQuality
all individuals: 1974
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1240
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19617
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2012
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.356600838949899e-5
allele num: 42434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2930
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.82e-1

DP
type: SiteQuality
SIO_000300: 9.42243e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.43e-1

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

FS
type: SiteQuality
SIO_000300: 1.958e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

GenotypeQuality
all individuals: 22653
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21454
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.468075599839149e-5
allele num: 44762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5980
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3100
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6076
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.112e1

DP
type: SiteQuality
SIO_000300: 9.72843e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

MQ
type: SiteQuality
SIO_000300: 5.904e1

GenotypeQuality
all individuals: 2814
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 75
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.186939596728338e-5
allele num: 45726
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

MQ
type: SiteQuality
SIO_000300: 5.843e1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

FS
type: SiteQuality
SIO_000300: 2.632e0

DP
type: SiteQuality
SIO_000300: 9.85156e5

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.83e-1

GenotypeQuality
all individuals: 848
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21664
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2064
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1039
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.349528076203732e-5
allele num: 45982
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6086
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3182
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.353546291283162e-4
allele num: 7388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

DP
type: SiteQuality
SIO_000300: 9.93167e5

FS
type: SiteQuality
SIO_000300: 5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

MQ
type: SiteQuality
SIO_000300: 5.868e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.25e0

VQSLOD
type: SiteQuality
SIO_000300: -6.758e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
all individuals: 1077
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1534
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 23626
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11976
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48604
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6798
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.715498270983968e-4
allele num: 6362
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

MQ
type: SiteQuality
SIO_000300: 5.883e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 4.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

DP
type: SiteQuality
SIO_000300: 1.021213e6

GenotypeQuality
all individuals: 360
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2209
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25085
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12016
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.5625e-4
allele num: 6400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49112
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.027334e6

MQRankSum
type: SiteQuality
SIO_000300: -4.78e-1

QD
type: SiteQuality
SIO_000300: 1.696e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.000000000000001e-2

FS
type: SiteQuality
SIO_000300: 2.785e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.009e0

GenotypeQuality
all individuals: 174
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25742
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2195
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.35421888053467e-5
allele num: 11970
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7638
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.898999999999999e0

QD
type: SiteQuality
SIO_000300: 7.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

DP
type: SiteQuality
SIO_000300: 1.034745e6

VQSLOD
type: SiteQuality
SIO_000300: -1.149e0

MQRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.55e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2227
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26302
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2497
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12000
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.793296089385475e-4
allele num: 7160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3668
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50444
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.956e0

VQSLOD
type: SiteQuality
SIO_000300: -1.594e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

DP
type: SiteQuality
SIO_000300: 1.039261e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

QD
type: SiteQuality
SIO_000300: 7.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e0

MQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

GenotypeQuality
all individuals: 3184
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3396
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 461
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 9.75e1
variant carriers: 13

African
type: Population
allele count: 9
allele frequency: 1.193001060445387e-3
allele num: 7544
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.730403183941858e-4
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6646
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.360914534567229e-4
allele num: 7348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3826
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.96e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

DP
type: SiteQuality
SIO_000300: 1.000691e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

QD
type: SiteQuality
SIO_000300: 1.022e1

GenotypeQuality
all individuals: 1119
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23076
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 659
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.924646781789639e-5
allele num: 50960
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7376
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11622
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

FS
type: SiteQuality
SIO_000300: 8.611000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

VQSLOD
type: SiteQuality
SIO_000300: -1.569e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 1.001037e6

QD
type: SiteQuality
SIO_000300: 7.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.18e-1

GenotypeQuality
all individuals: 1710
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21045
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3626
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.96232339089482e-5
allele num: 50960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7352
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6666
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.66e-1

DP
type: SiteQuality
SIO_000300: 9.7923e5

QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

GenotypeQuality
all individuals: 22459
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 173
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21041
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1788
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6668
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3838
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.963402183303228e-5
allele num: 50932
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

DP
type: SiteQuality
SIO_000300: 9.74275e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.54e0

VQSLOD
type: SiteQuality
SIO_000300: -2.855e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.98e0

GenotypeQuality
all individuals: 170
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1785
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 9.859599305884209e-5
allele num: 50712
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.339046598821639e-4
allele num: 7468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.0e-1

FS
type: SiteQuality
SIO_000300: 1.268e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.136e1

VQSLOD
type: SiteQuality
SIO_000300: 2.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

DP
type: SiteQuality
SIO_000300: 9.69625e5

GenotypeQuality
all individuals: 125
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18979
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.727526618956188e-5
allele num: 11458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.380561691385295e-4
allele num: 50704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7354
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.343363782912413e-4
allele num: 7444
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.01295570955107e-4
allele num: 6638
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -8.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 1.179e0

QD
type: SiteQuality
SIO_000300: 1.153e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.57215e5

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

GenotypeQuality
all individuals: 18257
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50630
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.353546291283162e-4
allele num: 7388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.1532e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.578e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

QD
type: SiteQuality
SIO_000300: 1.008e1

DP
type: SiteQuality
SIO_000300: 9.48334e5

MQ
type: SiteQuality
SIO_000300: 5.911e1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-1

GenotypeQuality
all individuals: 148
bin: 2.5e0
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
all individuals: 429
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17573
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6624
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.807468733485996e-5
allele num: 11354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7268
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.356e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 9.33229e5

VQSLOD
type: SiteQuality
SIO_000300: -1.421e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

QD
type: SiteQuality
SIO_000300: 1.454e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.139e0

MQRankSum
type: SiteQuality
SIO_000300: -1.464e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1424
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GenotypeQuality
all individuals: 870
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.999680051191809e-5
allele num: 50008
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7254
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.97e-1

DP
type: SiteQuality
SIO_000300: 8.94152e5

MQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

FS
type: SiteQuality
SIO_000300: 1.331e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.843e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.65e-1

QD
type: SiteQuality
SIO_000300: 1.033e1

GenotypeQuality
all individuals: 10643
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variant carriers: 0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 256
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 168
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 319
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.723311546840959e-4
allele num: 11016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6918
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3798
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

QD
type: SiteQuality
SIO_000300: 1.179e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

DP
type: SiteQuality
SIO_000300: 8.64332e5

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

GenotypeQuality
all individuals: 165
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5746
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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: 10775
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GenotypeQuality
all individuals: 346
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6908
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11036
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3794
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.231e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.414e0

DP
type: SiteQuality
SIO_000300: 8.63588e5

MQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.130000000000001e0

GenotypeQuality
all individuals: 1891
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 384
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GenotypeQuality
all individuals: 7445
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.080126471689479e-5
allele num: 48074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3676
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.589e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.017e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.34115e5

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 978
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 763
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GenotypeQuality
all individuals: 5412
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6708
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47750
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.76678445229682e-3
allele num: 566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3652
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.435e1

DP
type: SiteQuality
SIO_000300: 8.31221e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.16e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 981
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variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.092050209205021e-5
allele num: 47800
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.616e1

DP
type: SiteQuality
SIO_000300: 8.31529e5

FS
type: SiteQuality
SIO_000300: 4.923e0

VQSLOD
type: SiteQuality
SIO_000300: -1.103e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

QD
type: SiteQuality
SIO_000300: 9.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-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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variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.201285550761645e-5
allele num: 45428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6122
num of homozygotes: 0

East 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: 540
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 8.32413e5

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.777e1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 1.1621e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.055e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 9.18e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4427
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GenotypeQuality
all individuals: 163
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9566
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.68549e5

VQSLOD
type: SiteQuality
SIO_000300: -3.31e-2

QD
type: SiteQuality
SIO_000300: 2.204e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.47e-2

GenotypeQuality
all individuals: 171
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4895
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23548
bin: 7.5e0
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2962
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 2.246e0

QD
type: SiteQuality
SIO_000300: 1.267e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.545e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.46e-2

DP
type: SiteQuality
SIO_000300: 4.70155e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.88e-1

GenotypeQuality
all individuals: 5430
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2966
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.31e-2

QD
type: SiteQuality
SIO_000300: 1.467e1

DP
type: SiteQuality
SIO_000300: 4.74198e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 6440
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2740
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2974
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 2.647603918453799e-4
allele num: 7554
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.412e1

VQSLOD
type: SiteQuality
SIO_000300: 8.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.14e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.988e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.85e-1

DP
type: SiteQuality
SIO_000300: 4.82904e5

GenotypeQuality
all individuals: 110
bin: 5.75e1
variant carriers: 3

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 13

GenotypeQuality
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bin: 6.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 6.683215581439755e-4
allele num: 10474
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.061571125265393e-3
allele num: 942
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 6.40861317610869e-4
allele num: 7802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3074
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.973e0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

VQSLOD
type: SiteQuality
SIO_000300: 7.9e-1

DP
type: SiteQuality
SIO_000300: 5.68009e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.04e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

QD
type: SiteQuality
SIO_000300: 1.396e1

GenotypeQuality
all individuals: 721
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10942
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7960
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3146
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.62e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

QD
type: SiteQuality
SIO_000300: 1.485e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.82747e5

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4949
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 202
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variant carriers: 0

GenotypeQuality
all individuals: 1626
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1124
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.064e0

MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

DP
type: SiteQuality
SIO_000300: 6.09436e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.588e0

QD
type: SiteQuality
SIO_000300: 9.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.06e-2

MQ
type: SiteQuality
SIO_000300: 5.763e1

GenotypeQuality
all individuals: 2110
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 972
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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: 2

GenotypeQuality
all individuals: 5446
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variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1162
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 1.552795031055901e-4
allele num: 12880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3452
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.983e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.78e0

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.49e-1

DP
type: SiteQuality
SIO_000300: 6.46063e5

QD
type: SiteQuality
SIO_000300: 1.54e1

VQSLOD
type: SiteQuality
SIO_000300: -4.183e-1

MQ
type: SiteQuality
SIO_000300: 5.764e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.47e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.49e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1337
bin: 6.75e1
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GenotypeQuality
all individuals: 442
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.069136151562279e-5
allele num: 14146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.66e0

QD
type: SiteQuality
SIO_000300: 1.488e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.04e-2

DP
type: SiteQuality
SIO_000300: 6.76374e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.74e-1

BaseQRankSum
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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bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.55307994757536e-5
allele num: 15260
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1762
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 5.277044854881266e-4
allele num: 3790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1670
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.69e-2

FS
type: SiteQuality
SIO_000300: 4.177e0

DP
type: SiteQuality
SIO_000300: 6.96528e5

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.509e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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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
all individuals: 1416
bin: 3.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2000
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 16904
num of homozygotes: 0

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

African
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allele frequency: 2.501250625312656e-4
allele num: 3998
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.144e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.65e-1

MQ
type: SiteQuality
SIO_000300: 5.843e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.822e0

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
all individuals: 644
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
type: Population
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allele frequency: 1.072731173567904e-4
allele num: 9322
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2192
num of homozygotes: 0

African
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: 336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2280
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.38498e5

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 5.863e1

VQSLOD
type: SiteQuality
SIO_000300: -3.075e0

QD
type: SiteQuality
SIO_000300: 1.263e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.013e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.34e-2

FS
type: SiteQuality
SIO_000300: 1.129e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.774e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e0

GenotypeQuality
all individuals: 658
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 297
bin: 9.25e1
variant carriers: 87

GenotypeQuality
all individuals: 604
bin: 7.25e1
variant carriers: 41

GenotypeQuality
all individuals: 769
bin: 3.75e1
variant carriers: 13

GenotypeQuality
all individuals: 323
bin: 4.75e1
variant carriers: 30

GenotypeQuality
all individuals: 4242
bin: 7.5e0
variant carriers: 9

GenotypeQuality
all individuals: 279
bin: 8.75e1
variant carriers: 77

GenotypeQuality
all individuals: 276
bin: 4.25e1
variant carriers: 21

GenotypeQuality
all individuals: 8080
bin: 6.25e1
variant carriers: 36

East Asian
type: Population
allele count: 1
allele frequency: 3.802281368821293e-4
allele num: 2630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 169
allele frequency: 1.371753246753247e-1
allele num: 1232
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 1228
allele frequency: 5.614997713763146e-2
allele num: 21870
num of homozygotes: 13

Latino
type: Population
allele count: 59
allele frequency: 2.181952662721894e-2
allele num: 2704
num of homozygotes: 0

African
type: Population
allele count: 37
allele frequency: 8.214920071047958e-3
allele num: 4504
num of homozygotes: 0

Other
type: Population
allele count: 9
allele frequency: 2.393617021276596e-2
allele num: 376
num of homozygotes: 0

South Asian
type: Population
allele count: 201
allele frequency: 2.051857901184157e-2
allele num: 9796
num of homozygotes: 4

QD
type: SiteQuality
SIO_000300: 1.263e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.84072e5

FS
type: SiteQuality
SIO_000300: 5.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeQuality
all individuals: 229
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1060
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1438
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33286
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1656
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 1
allele frequency: 3.355704697986577e-4
allele num: 2980
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4690
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 8.566044200788077e-5
allele num: 23348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2878
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10044
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

QD
type: SiteQuality
SIO_000300: 1.091e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

DP
type: SiteQuality
SIO_000300: 7.93756e5

FS
type: SiteQuality
SIO_000300: 5.096e0

MQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

GenotypeQuality
all individuals: 2962
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2903
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9798
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1768
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.759398496240602e-4
allele num: 5320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29166
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.41022e5

FS
type: SiteQuality
SIO_000300: 4.877e0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 7.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.122e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

GenotypeQuality
all individuals: 285
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2924
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1565
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30410
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.926977325477593e-5
allele num: 11202
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5348
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

QD
type: SiteQuality
SIO_000300: 6.03e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.573e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.529e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 8.43022e5

GenotypeQuality
all individuals: 118
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1726
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22948
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15613
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2592
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8054
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.984205722449303e-5
allele num: 50398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14390
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.333e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

DP
type: SiteQuality
SIO_000300: 1.162137e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

FS
type: SiteQuality
SIO_000300: 5.704e0

VQSLOD
type: SiteQuality
SIO_000300: 9.360000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 549
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1385
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15613
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1726
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2383
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8054
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.408450704225352e-3
allele num: 710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7428
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

QD
type: SiteQuality
SIO_000300: 1.333e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 5.704e0

VQSLOD
type: SiteQuality
SIO_000300: 9.360000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.162137e6

MQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

GenotypeQuality
all individuals: 2000
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1408
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4858
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1616
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4972
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54460
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8734
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 1.070234113712375e-3
allele num: 14950
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

FS
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.213e1

DP
type: SiteQuality
SIO_000300: 1.250255e6

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.79e-1

GenotypeQuality
all individuals: 1904
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1258
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2044
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8726
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31824
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.070434596446157e-4
allele num: 9342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.905600441958428e-5
allele num: 57924
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5416
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 1.320036e6

VQSLOD
type: SiteQuality
SIO_000300: 3.47e-1

QD
type: SiteQuality
SIO_000300: 1.336e1

FS
type: SiteQuality
SIO_000300: 1.19e0

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

GenotypeQuality
all individuals: 608
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8094
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1745
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 675
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2100
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58492
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5500
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.432522835456066e-5
allele num: 15546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9494
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e0

VQSLOD
type: SiteQuality
SIO_000300: -2.261e0

MQ
type: SiteQuality
SIO_000300: 5.892e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.494e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.881e0

DP
type: SiteQuality
SIO_000300: 1.333737e6

MQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

QD
type: SiteQuality
SIO_000300: 8.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

GenotypeQuality
all individuals: 70
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 573
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33919
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6227
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2248
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2480
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5820
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.958863858961802e-4
allele num: 10210
num of homozygotes: 0

South Asian
type: Population
allele count: 137
allele frequency: 8.627204030226701e-3
allele num: 15880
num of homozygotes: 1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.835e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.338e1

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
SIO_000300: 5.3e-1

DP
type: SiteQuality
SIO_000300: 1.392419e6

VQSLOD
type: SiteQuality
SIO_000300: 4.12e0

GenotypeQuality
all individuals: 5391
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6417
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.680542110358181e-5
allele num: 10330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60932
num of homozygotes: 0

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

South Asian
type: Population
allele count: 9
allele frequency: 5.64334085778781e-4
allele num: 15948
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5848
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7792
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.738e0

QD
type: SiteQuality
SIO_000300: 1.141e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 5.279e0

VQSLOD
type: SiteQuality
SIO_000300: 9.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.401451e6

GenotypeQuality
all individuals: 81
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6579
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2803
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1794
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5930
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.623798389191998e-5
allele num: 61584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16028
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

QD
type: SiteQuality
SIO_000300: 1.031e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.75e-1

DP
type: SiteQuality
SIO_000300: 1.420064e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.925e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

GenotypeQuality
all individuals: 444
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2771
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3272
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.221001221001221e-4
allele num: 8190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64034
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11168
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.084e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.081e0

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

FS
type: SiteQuality
SIO_000300: 3.163e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

VQSLOD
type: SiteQuality
SIO_000300: 5.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

DP
type: SiteQuality
SIO_000300: 1.488356e6

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

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

GenotypeQuality
all individuals: 151
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1852
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41546
bin: 9.75e1
variant carriers: 1

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: 16468
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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
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: -5.621e0

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-1

QD
type: SiteQuality
SIO_000300: 1.422e1

FS
type: SiteQuality
SIO_000300: 9.350000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 3.642969e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
all individuals: 183
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3146
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2048
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1844
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41545
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 16446
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000300030003e-5
allele num: 66660
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: -1.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e0

MQ
type: SiteQuality
SIO_000300: 6.032e1

DP
type: SiteQuality
SIO_000300: 3.643081e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.601e1

VQSLOD
type: SiteQuality
SIO_000300: 4.44e0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1917
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1262
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41552
bin: 9.75e1
variant carriers: 211

GenotypeQuality
all individuals: 130
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 188
allele frequency: 2.820028200282003e-3
allele num: 66666
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: 3
allele frequency: 3.303964757709251e-3
allele num: 908
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 11
allele frequency: 9.502418797512094e-4
allele num: 11576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.058361052313275e-3
allele num: 6614
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.253e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.107e0

FS
type: SiteQuality
SIO_000300: 1.632e0

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.95e-1

DP
type: SiteQuality
SIO_000300: 3.649105e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.49e-1

GenotypeQuality
all individuals: 124
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3165
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41500
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6635
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1828
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 16468
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-2

MQ
type: SiteQuality
SIO_000300: 5.899e1

QD
type: SiteQuality
SIO_000300: 1.071e1

DP
type: SiteQuality
SIO_000300: 3.63746e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.064e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.233e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.68e-1

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1834
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41500
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3162
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2050
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1924
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.269e0

DP
type: SiteQuality
SIO_000300: 3.637636e6

MQRankSum
type: SiteQuality
SIO_000300: 3.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.939e1

QD
type: SiteQuality
SIO_000300: 1.56e1

FS
type: SiteQuality
SIO_000300: 2.892e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.679999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.8e0

GenotypeQuality
all individuals: 124
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3172
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1828
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41499
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1261
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 66672
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.714e0

VQSLOD
type: SiteQuality
SIO_000300: -1.064e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.223e0

FS
type: SiteQuality
SIO_000300: 4.536e0

MQ
type: SiteQuality
SIO_000300: 5.868e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.82e-1

QD
type: SiteQuality
SIO_000300: 1.299e1

DP
type: SiteQuality
SIO_000300: 3.638059e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

GenotypeQuality
all individuals: 1923
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3182
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7193
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2035
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1540
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.998980173370527e-5
allele num: 66678
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.213e0

MQ
type: SiteQuality
SIO_000300: 5.792e1

MQRankSum
type: SiteQuality
SIO_000300: 7.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.054e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

DP
type: SiteQuality
SIO_000300: 3.6414e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.639e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.232e1

GenotypeQuality
all individuals: 1529
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3206
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

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: 9.75e1
variant carriers: 1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.599e1

VQSLOD
type: SiteQuality
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BaseQRankSum
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MQRankSum
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SIO_000300: 1.12e-1

FS
type: SiteQuality
SIO_000300: 4.964e0

InbreedingCoeff
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SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.408e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

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

Other
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allele frequency: 0.0e0
allele num: 904
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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.752e-1

MQ
type: SiteQuality
SIO_000300: 5.858e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

InbreedingCoeff
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FS
type: SiteQuality
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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DP
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10378
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.882e0

ReadPosRankSum
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SIO_000300: -1.0e0

InbreedingCoeff
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BaseQRankSum
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MQ
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MQRankSum
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SIO_000300: -1.165e0

QD
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VQSLOD
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SIO_000300: -2.265e0

DP
type: SiteQuality
SIO_000300: 3.640956e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.64e-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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variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele 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: 902
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: 8648
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501501501501501e-5
allele num: 66600
num of homozygotes: 0

DP
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SIO_000300: 3.636913e6

MQ
type: SiteQuality
SIO_000300: 5.853e1

FS
type: SiteQuality
SIO_000300: 2.943e0

BaseQRankSum
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SIO_000300: 8.539999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

QD
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SIO_000300: 1.524e1

ReadPosRankSum
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SIO_000300: -5.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.031e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-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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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66552
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.671179883945841e-5
allele num: 10340
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.16e-1

DP
type: SiteQuality
SIO_000300: 3.635164e6

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.705e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.687e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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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)
type: Population
allele count: 1
allele frequency: 1.531862745098039e-4
allele num: 6528
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505706628120577e-5
allele num: 66414
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.666e0

ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 1.5848e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.15e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.834e1

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.9e0

DP
type: SiteQuality
SIO_000300: 3.612499e6

GenotypeQuality
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bin: 7.25e1
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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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505706628120577e-5
allele num: 66414
num of homozygotes: 0

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

African
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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
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.834e1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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DP
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QD
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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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: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele frequency: 1.50961625554784e-5
allele num: 66242
num of homozygotes: 0

European (Finnish)
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Latino
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East Asian
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South Asian
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FS
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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QD
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DP
type: SiteQuality
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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 count: 0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.50961625554784e-5
allele num: 66242
num of homozygotes: 0

European (Finnish)
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East Asian
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Other
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MQRankSum
type: SiteQuality
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QD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQ
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FS
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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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Other
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allele num: 802
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Latino
type: Population
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allele num: 11404
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South Asian
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European (Finnish)
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East Asian
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European (Non-Finnish)
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allele num: 62394
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African
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MQRankSum
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DP
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FS
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ReadPosRankSum
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ClippingRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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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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bin: 5.25e1
variant carriers: 69

GenotypeQuality
all individuals: 33818
bin: 9.75e1
variant carriers: 716

GenotypeQuality
all individuals: 1555
bin: 9.25e1
variant carriers: 50

Other
type: Population
allele count: 18
allele frequency: 2.542372881355932e-2
allele num: 708
num of homozygotes: 0

South Asian
type: Population
allele count: 52
allele frequency: 3.227408142999007e-3
allele num: 16112
num of homozygotes: 0

Latino
type: Population
allele count: 262
allele frequency: 2.576711250983478e-2
allele num: 10168
num of homozygotes: 0

African
type: Population
allele count: 127
allele frequency: 1.605562579013907e-2
allele num: 7910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 406
allele frequency: 9.337626494940203e-2
allele num: 4348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 697
allele frequency: 1.215471540178571e-2
allele num: 57344
num of homozygotes: 0

East Asian
type: Population
allele count: 181
allele frequency: 2.315762538382804e-2
allele num: 7816
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.972e0

DP
type: SiteQuality
SIO_000300: 3.632458e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.44e-1

FS
type: SiteQuality
SIO_000300: 1.18231e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.99e-2

MQ
type: SiteQuality
SIO_000300: 5.919e1

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.99e-1

QD
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: -6.195e1

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6006
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43610
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1656
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66468
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.39e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.378e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

DP
type: SiteQuality
SIO_000300: 3.402511e6

MQRankSum
type: SiteQuality
SIO_000300: -3.23e-1

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1240
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43609
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1232
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5736
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1619
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.395257e6

QD
type: SiteQuality
SIO_000300: 2.454e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.329e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

FS
type: SiteQuality
SIO_000300: 5.641e0

MQ
type: SiteQuality
SIO_000300: 5.727e1

VQSLOD
type: SiteQuality
SIO_000300: -1.004e0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

GenotypeQuality
all individuals: 1229
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5735
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1617
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1937
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505615947484116e-5
allele num: 66418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
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: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.909e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.88e-1

DP
type: SiteQuality
SIO_000300: 3.395235e6

QD
type: SiteQuality
SIO_000300: 1.034e1

MQ
type: SiteQuality
SIO_000300: 5.291e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43607
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1227
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1229
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
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: 8626
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66416
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.33e-1

QD
type: SiteQuality
SIO_000300: 1.517e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.85e-1

MQ
type: SiteQuality
SIO_000300: 5.921e1

DP
type: SiteQuality
SIO_000300: 3.394149e6

FS
type: SiteQuality
SIO_000300: 3.622e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.15e-1

GenotypeQuality
all individuals: 1224
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1637
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2304
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43609
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505797319680771e-5
allele num: 66410
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

QD
type: SiteQuality
SIO_000300: 1.328e1

FS
type: SiteQuality
SIO_000300: 7.822e0

MQ
type: SiteQuality
SIO_000300: 5.897e1

DP
type: SiteQuality
SIO_000300: 3.39194e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -7.397e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.108e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.68e-1