3-47814265-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814265
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814265
    reference: chr 3
allele count: 4
allele frequency: 3.321597023849066e-5
allele num: 120424
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.205+42C>G
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.315+42C>G
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.315+42C>G
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8140
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4293
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14947
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5595
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20039
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

3-47814268-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814268
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814268
    reference: chr 3
allele count: 1
allele frequency: 8.301648707433296e-6
allele num: 120458
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.315+39T>C
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.205+39T>C
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.315+39T>C
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20035
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 4154
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4288
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5601
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

3-47814269-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814269
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814269
    reference: chr 3
allele count: 1
allele frequency: 8.304544246611745e-6
allele num: 120416
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.205+38G>A
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.315+38G>A
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.315+38G>A
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-47814273-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814273
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814273
    reference: chr 3
allele count: 1
allele frequency: 8.298341991270144e-6
allele num: 120506
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.205+34C>T
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.315+34C>T
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.315+34C>T
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6835
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4278
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

3-47814273-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814273
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814273
    reference: chr 3
allele count: 1
allele frequency: 8.298341991270144e-6
allele num: 120506
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.205+34C>G
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.315+34C>G
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.315+34C>G
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3552
  bin: 9.25e1
  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: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4153
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 20035
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4278
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/3-47814287-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814287
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814287
    reference: chr 3
allele count: 1
allele frequency: 8.286926544683108e-6
allele num: 120672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.205+20G>T
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.315+20G>T
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.315+20G>T
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 535
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3552
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ

3-47814288-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814288
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814288
    reference: chr 3
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.315+19T>C
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.205+19T>C
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.315+19T>C
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12828
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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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
  all individuals: 429
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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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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 259
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

3-47814304-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814304
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814304
    reference: chr 3
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.315+3A>G
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.205+3A>G
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.315+3A>G
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
hgvs: c.315+3A>G
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

3-47814307-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814307
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814307
    reference: chr 3
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.205T>C
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.315T>C
  hgvsp: ENST00000254480.5:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.315T>C
  hgvsp: ENST00000454240.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6798
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4287
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17676
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20030
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
hgvs: c.315T>C
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

3-47814310-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814310
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814310
    reference: chr 3
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.202C>G
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.312C>G
  hgvsp: ENST00000454240.1:c.312C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.312C>G
  hgvsp: ENST00000254480.5:c.312C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10291
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6833
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 13145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 4288
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genotype quality: GenotypeQuality
  all individuals: 3552
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
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genotype quality: GenotypeQuality
  all individuals: 17740
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genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu104Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

3-47814314-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814314
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814314
    reference: chr 3
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.308A>G
  hgvsp: ENSP00000414266.1:p.Lys103Arg
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.198A>G
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.308A>G
  hgvsp: ENSP00000254480.5:p.Lys103Arg
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6832
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
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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: 4288
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2195
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys103Arg
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

3-47814318-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814318
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814318
    reference: chr 3
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.304A>G
  hgvsp: ENSP00000254480.5:p.Thr102Ala
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.304A>G
  hgvsp: ENSP00000414266.1:p.Thr102Ala
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.194A>G
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6831
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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: 1262
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genotype depth: GenotypeDepth
  all individuals: 534
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
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genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1969
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4292
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr102Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-47814325-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814325
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814325
    reference: chr 3
allele count: 3
allele frequency: 2.473737157181259e-5
allele num: 121274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.187G>A
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.297G>A
  hgvsp: ENST00000454240.1:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.297G>A
  hgvsp: ENST00000254480.5:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
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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: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5740
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4288
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3551
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4154
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro99Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

3-47814326-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814326
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814326
    reference: chr 3
allele count: 2
allele frequency: 1.648913366091746e-5
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.186C>T
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.296C>T
  hgvsp: ENSP00000414266.1:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.296C>T
  hgvsp: ENSP00000254480.5:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20016
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4154
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 11
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genotype quality: GenotypeQuality
  all individuals: 14
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 3550
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4290
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro99Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

3-47814327-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814327
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814327
    reference: chr 3
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.295C>T
  hgvsp: ENSP00000414266.1:p.Pro99Ser
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.295C>T
  hgvsp: ENSP00000254480.5:p.Pro99Ser
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.185C>T
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6832
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4290
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2715
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5746
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro99Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-47814339-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814339
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814339
    reference: chr 3
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.283C>T
  hgvsp: ENSP00000254480.5:p.His95Tyr
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.283C>T
  hgvsp: ENSP00000414266.1:p.His95Tyr
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.173C>T
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6935
  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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6829
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2716
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genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His95Tyr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-47814349-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814349
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814349
    reference: chr 3
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.273C>T
  hgvsp: ENST00000254480.5:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.163C>T
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.273C>T
  hgvsp: ENST00000454240.1:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20002
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4282
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala91Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

3-47814349-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814349
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814349
    reference: chr 3
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.273C>G
  hgvsp: ENST00000454240.1:c.273C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.273C>G
  hgvsp: ENST00000254480.5:c.273C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.163C>G
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4917
  bin: 4.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17983
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 20002
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4152
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala91Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

3-47814352-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814352
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814352
    reference: chr 3
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.270T>A
  hgvsp: ENSP00000254480.5:p.Asp90Glu
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.270T>A
  hgvsp: ENSP00000414266.1:p.Asp90Glu
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.160T>A
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4917
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10283
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3545
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4151
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp90Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-47814361-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814361
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814361
    reference: chr 3
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.151C>T
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.261C>T
  hgvsp: ENST00000454240.1:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.261C>T
  hgvsp: ENST00000254480.5:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1961
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19994
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 3543
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe87Phe
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

3-47814364-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814364
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814364
    reference: chr 3
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.258G>A
  hgvsp: ENST00000454240.1:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.258G>A
  hgvsp: ENST00000254480.5:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.148G>A
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.75e1
  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
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17960
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5726
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4143
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4267
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln86Gln
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

3-47814374-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814374
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814374
    reference: chr 3
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.138A>T
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.248A>T
  hgvsp: ENSP00000254480.5:p.Gln83Leu
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.248A>T
  hgvsp: ENSP00000414266.1:p.Gln83Leu
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8117
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genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 310
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genotype depth: GenotypeDepth
  all individuals: 846
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
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genotype depth: GenotypeDepth
  all individuals: 259
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genotype depth: GenotypeDepth
  all individuals: 10214
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13262
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 23
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 17
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln83Leu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

3-47814379-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814379
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814379
    reference: chr 3
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.133G>A
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.243G>A
  hgvsp: ENST00000454240.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.243G>A
  hgvsp: ENST00000254480.5:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13283
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19980
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 4241
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val81Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

3-47814381-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814381
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814381
    reference: chr 3
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.131G>A
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.241G>A
  hgvsp: ENSP00000254480.5:p.Val81Met
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.241G>A
  hgvsp: ENSP00000414266.1:p.Val81Met
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  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
  all individuals: 1260
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2180
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  variant carriers: 0
hgvs: p.Val81Met
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

3-47814395-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814395
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814395
    reference: chr 3
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.227C>T
  hgvsp: ENSP00000414266.1:p.Thr76Ile
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.117C>T
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.227C>T
  hgvsp: ENSP00000254480.5:p.Thr76Ile
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2677
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4115
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr76Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS

3-47814400-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814400
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814400
    reference: chr 3
allele count: 5
allele frequency: 4.122079506669525e-5
allele num: 121298
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.222T>C
  hgvsp: ENST00000254480.5:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.112T>C
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.222T>C
  hgvsp: ENST00000454240.1:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4907
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 531
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
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genotype depth: GenotypeDepth
  all individuals: 13304
  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
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genotype depth: GenotypeDepth
  all individuals: 683
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 100
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genotype quality: GenotypeQuality
  all individuals: 5637
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4230
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 18
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genotype quality: GenotypeQuality
  all individuals: 18146
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn74Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS

3-47814401-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814401
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814401
    reference: chr 3
allele count: 2
allele frequency: 1.648913366091746e-5
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.221A>G
  hgvsp: ENSP00000414266.1:p.Asn74Ser
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.111A>G
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.221A>G
  hgvsp: ENSP00000254480.5:p.Asn74Ser
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6788
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1961
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10103
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 22
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genotype quality: GenotypeQuality
  all individuals: 19966
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn74Ser
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

3-47814411-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814411
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814411
    reference: chr 3
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.211G>C
  hgvsp: ENSP00000414266.1:p.Ala71Pro
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.211G>C
  hgvsp: ENSP00000254480.5:p.Ala71Pro
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.101G>C
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13239
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6783
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 10044
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala71Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

3-47814415-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814415
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814415
    reference: chr 3
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.207G>A
  hgvsp: ENST00000454240.1:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.97G>A
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.207G>A
  hgvsp: ENST00000254480.5:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10038
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 841
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3521
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18027
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala69Ala
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

3-47814416-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814416
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814416
    reference: chr 3
allele count: 3
allele frequency: 2.476023835856127e-5
allele num: 121162
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.206C>T
  hgvsp: ENSP00000254480.5:p.Ala69Val
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.206C>T
  hgvsp: ENSP00000414266.1:p.Ala69Val
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.96C>T
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8049
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4089
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18036
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19945
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2626
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala69Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

3-47814418-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814418
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814418
    reference: chr 3
allele count: 1
allele frequency: 8.253821519363466e-6
allele num: 121156
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.204T>C
  hgvsp: ENST00000454240.1:c.204T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.204T>C
  hgvsp: ENST00000254480.5:c.204T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.94T>C
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13239
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 19943
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genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
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genotype quality: GenotypeQuality
  all individuals: 3517
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 38
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 249
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genotype quality: GenotypeQuality
  all individuals: 18078
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genotype quality: GenotypeQuality
  all individuals: 5561
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genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4084
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His68His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

3-47814423-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814423
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814423
    reference: chr 3
allele count: 7
allele frequency: 5.781397115908753e-5
allele num: 121078
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.199G>A
  hgvsp: ENSP00000414266.1:p.Val67Ile
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.199G>A
  hgvsp: ENSP00000254480.5:p.Val67Ile
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.89G>A
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8029
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9956
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4168
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genotype quality: GenotypeQuality
  all individuals: 2602
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19948
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 4073
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val67Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

3-47814430-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814430
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814430
    reference: chr 3
allele count: 8
allele frequency: 6.616601052039567e-5
allele num: 120908
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.196-4G>A
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.196-4G>A
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.86-4G>A
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8015
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19944
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4058
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5431
  bin: 6.75e1
  variant carriers: 0
hgvs: c.196-4G>A
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

3-47814441-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814441
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814441
    reference: chr 3
allele count: 2
allele frequency: 1.659227795384028e-5
allele num: 120538
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.86-15G>C
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.196-15G>C
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.196-15G>C
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19934
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4044
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3508
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4109
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/3-47814442-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814442
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814442
    reference: chr 3
allele count: 1
allele frequency: 8.297653423611802e-6
allele num: 120516
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.196-16T>G
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.196-16T>G
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.86-16T>G
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16118
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3508
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4042
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

3-47814442-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814442
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814442
    reference: chr 3
allele count: 1
allele frequency: 8.297653423611802e-6
allele num: 120516
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.196-16T>C
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.196-16T>C
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.86-16T>C
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19933
  bin: 9.75e1
  variant carriers: 1
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: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

3-47814451-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814451
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814451
    reference: chr 3
allele count: 1
allele frequency: 8.311170212765958e-6
allele num: 120320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.196-25T>C
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.196-25T>C
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.86-25T>C
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  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: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ

3-47814455-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814455
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814455
    reference: chr 3
allele count: 1
allele frequency: 8.3166999334664e-6
allele num: 120240
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.196-29G>A
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.196-29G>A
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.86-29G>A
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4897
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9236
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3995
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19922
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3500
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3998
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

3-47814456-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814456
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814456
    reference: chr 3
allele count: 1
allele frequency: 8.316838270762986e-6
allele num: 120238
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.196-30A>G
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.86-30A>G
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.196-30A>G
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4897
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3991
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 24
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4787
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

3-47814459-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814459
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814459
    reference: chr 3
allele count: 1
allele frequency: 8.321405984755183e-6
allele num: 120172
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.86-33A>G
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.196-33A>G
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.196-33A>G
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  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: 1958
  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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-47814471-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814471
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47814471
    reference: chr 3
allele count: 1
allele frequency: 8.355754608198667e-6
allele num: 119678
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.86-45T>G
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.196-45T>G
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.196-45T>G
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  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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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8288
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-47823047-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823047
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823047
    reference: chr 3
allele count: 1
allele frequency: 2.168915108662647e-5
allele num: 46106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+465C>T
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.195+46C>T
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.195+46C>T
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 1.75e1
  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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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4923
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3916
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3867
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum

3-47823049-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823049
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823049
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 46634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+463G>A
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.195+44G>A
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.195+44G>A
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 87
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-47823050-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823050
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823050
    reference: chr 3
allele count: 4
allele frequency: 8.526603001364257e-5
allele num: 46912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+462G>T
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.195+43G>T
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.195+43G>T
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

3-47823052-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823052
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823052
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 47178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.195+41C>T
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+460C>T
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.195+41C>T
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8973
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 971
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-47823057-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823057
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823057
    reference: chr 3
allele count: 1
allele frequency: 2.038071169445237e-5
allele num: 49066
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+455G>A
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.195+36G>A
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.195+36G>A
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2131
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-47823067-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823067
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823067
    reference: chr 3
allele count: 1
allele frequency: 1.76186616864583e-5
allele num: 56758
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.195+26G>A
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+445G>A
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.195+26G>A
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

3-47823078-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823078
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823078
    reference: chr 3
allele count: 2
allele frequency: 2.520097779793856e-5
allele num: 79362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+434C>G
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.195+15C>G
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.195+15C>G
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

3-47823081-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823081
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823081
    reference: chr 3
allele count: 3
allele frequency: 3.600057600921615e-5
allele num: 83332
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.195+12C>T
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.195+12C>T
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+431C>T
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 3
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

3-47823083-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823083
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823083
    reference: chr 3
allele count: 1
allele frequency: 1.147209985315712e-5
allele num: 87168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+429C>T
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.195+10C>T
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.195+10C>T
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 1.75e1
  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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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: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13120
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 33362
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD

3-47823084-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823084
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823084
    reference: chr 3
allele count: 2
allele frequency: 2.241951394493767e-5
allele num: 89208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+428G>A
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.195+9G>A
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.195+9G>A
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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 depth: GenotypeDepth
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  variant carriers: 2
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: 1.25e1
  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
  all individuals: 1943
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 488
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 453
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genotype quality: GenotypeQuality
  all individuals: 541
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1003
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 241
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  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

3-47823085-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823085
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823085
    reference: chr 3
allele count: 1
allele frequency: 1.095362236291542e-5
allele num: 91294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.195+8C>T
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.195+8C>T
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+427C>T
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  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
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 916
  bin: 3.75e1
  variant carriers: 0
hgvs: c.195+8C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

3-47823089-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823089
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823089
    reference: chr 3
allele count: 1
allele frequency: 1.028573779597211e-5
allele num: 97222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+423G>A
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.195+4G>A
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.195+4G>A
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9197
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genotype depth: GenotypeDepth
  all individuals: 35627
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
  all individuals: 352
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  variant carriers: 0
hgvs: c.195+4G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

3-47823097-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823097
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823097
    reference: chr 3
allele count: 1
allele frequency: 9.742220836661926e-6
allele num: 102646
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.191A>G
  hgvsp: ENSP00000254480.5:p.Lys64Arg
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+415A>G
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.191A>G
  hgvsp: ENSP00000414266.1:p.Lys64Arg
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3596
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6696
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43338
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys64Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum

3-47823114-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823114
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823114
    reference: chr 3
allele count: 1
allele frequency: 9.109957183201239e-6
allele num: 109770
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.174G>C
  hgvsp: ENSP00000254480.5:p.Trp58Cys
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.174G>C
  hgvsp: ENSP00000414266.1:p.Trp58Cys
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+398G>C
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 1
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: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 47744
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4012
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 465
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genotype quality: GenotypeQuality
  all individuals: 33
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Trp58Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

3-47823121-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823121
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823121
    reference: chr 3
allele count: 1
allele frequency: 9.026248330144059e-6
allele num: 110788
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.167G>C
  hgvsp: ENSP00000414266.1:p.Arg56Pro
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.167G>C
  hgvsp: ENSP00000254480.5:p.Arg56Pro
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+391G>C
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
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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: 22
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 4083
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 157
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg56Pro
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

3-47823122-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823122
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823122
    reference: chr 3
allele count: 4
allele frequency: 3.606007608676055e-5
allele num: 110926
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.166C>G
  hgvsp: ENSP00000254480.5:p.Arg56Gly
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.166C>G
  hgvsp: ENSP00000414266.1:p.Arg56Gly
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+390C>G
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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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: 10534
  bin: 2.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 48394
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genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg56Gly
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-47823126-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823126
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823126
    reference: chr 3
allele count: 3
allele frequency: 2.693917135108924e-5
allele num: 111362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.162G>C
  hgvsp: ENST00000454240.1:c.162G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+386G>C
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.162G>C
  hgvsp: ENST00000254480.5:c.162G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
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  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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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: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4149
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48650
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser54Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-47823141-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823141
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823141
    reference: chr 3
allele count: 6
allele frequency: 5.338078291814947e-5
allele num: 112400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.147G>C
  hgvsp: ENST00000454240.1:c.147G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+371G>C
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.147G>C
  hgvsp: ENST00000254480.5:c.147G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40648
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11096
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3004
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4208
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49308
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val49Val
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ

3-47823151-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823151
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823151
    reference: chr 3
allele count: 1
allele frequency: 8.896005693443644e-6
allele num: 112410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+361C>T
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.137C>T
  hgvsp: ENSP00000414266.1:p.Pro46Leu
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.137C>T
  hgvsp: ENSP00000254480.5:p.Pro46Leu
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49187
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro46Leu
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

3-47823152-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823152
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823152
    reference: chr 3
allele count: 3
allele frequency: 2.66851683834125e-5
allele num: 112422
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.136C>G
  hgvsp: ENSP00000254480.5:p.Pro46Ala
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+360C>G
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.136C>G
  hgvsp: ENSP00000414266.1:p.Pro46Ala
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 49130
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4177
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro46Ala
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

3-47823153-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823153
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823153
    reference: chr 3
allele count: 99
allele frequency: 8.809083143507973e-4
allele num: 112384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+359C>T
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.135C>T
  hgvsp: ENST00000254480.5:c.135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.135C>T
  hgvsp: ENST00000454240.1:c.135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 40143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11228
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
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  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4171
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 48955
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 9.75e1
  variant carriers: 98
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser45Ser
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-47823169-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823169
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823169
    reference: chr 3
allele count: 1
allele frequency: 8.924746537198343e-6
allele num: 112048
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+343C>A
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.119C>A
  hgvsp: ENSP00000414266.1:p.Thr40Asn
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.119C>A
  hgvsp: ENSP00000254480.5:p.Thr40Asn
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.75e1
  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: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47998
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 4110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr40Asn
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

3-47823170-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823170
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823170
    reference: chr 3
allele count: 1
allele frequency: 8.931761343336905e-6
allele num: 111960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.118A>C
  hgvsp: ENSP00000414266.1:p.Thr40Pro
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+342A>C
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.118A>C
  hgvsp: ENSP00000254480.5:p.Thr40Pro
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38950
  bin: 2.25e1
  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: 390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47844
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
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genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 47
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genotype quality: GenotypeQuality
  all individuals: 144
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genotype quality: GenotypeQuality
  all individuals: 20
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 201
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4094
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr40Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/3-47823180-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823180
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823180
    reference: chr 3
allele count: 1
allele frequency: 8.982950360216309e-6
allele num: 111322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.108G>T
  hgvsp: ENST00000454240.1:c.108G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+332G>T
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.108G>T
  hgvsp: ENST00000254480.5:c.108G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37122
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 80
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 124
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly36Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/3-47823185-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823185
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823185
    reference: chr 3
allele count: 1
allele frequency: 9.023641941887745e-6
allele num: 110820
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.103G>T
  hgvsp: ENSP00000254480.5:p.Asp35Tyr
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.103G>T
  hgvsp: ENSP00000414266.1:p.Asp35Tyr
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+327G>T
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 45159
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp35Tyr
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

3-47823190-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823190
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823190
    reference: chr 3
allele count: 1
allele frequency: 9.105146228648432e-6
allele num: 109828
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.98G>C
  hgvsp: ENSP00000254480.5:p.Arg33Pro
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.98G>C
  hgvsp: ENSP00000414266.1:p.Arg33Pro
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+322G>C
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2439
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42810
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7803
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg33Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

3-47823207-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823207
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823207
    reference: chr 3
allele count: 1
allele frequency: 1.147894761008311e-5
allele num: 87116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.81C>T
  hgvsp: ENST00000454240.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.81C>T
  hgvsp: ENST00000254480.5:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+305C>T
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16440
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17345
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3486
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21749
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly27Gly
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/3-47823212-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823212
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823212
    reference: chr 3
allele count: 6
allele frequency: 7.309763407324383e-5
allele num: 82082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.76G>T
  hgvsp: ENSP00000414266.1:p.Ala26Ser
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+300G>T
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.76G>T
  hgvsp: ENSP00000254480.5:p.Ala26Ser
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5703
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12654
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17635
  bin: 1.25e1
  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 quality: GenotypeQuality
  all individuals: 13550
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1980
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genotype quality: GenotypeQuality
  all individuals: 1001
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 867
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genotype quality: GenotypeQuality
  all individuals: 22136
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genotype quality: GenotypeQuality
  all individuals: 683
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 229
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genotype quality: GenotypeQuality
  all individuals: 80
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genotype quality: GenotypeQuality
  all individuals: 1029
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genotype quality: GenotypeQuality
  all individuals: 2386
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genotype quality: GenotypeQuality
  all individuals: 21
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  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala26Ser
num of homozygotes: 1
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-47823217-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823217
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823217
    reference: chr 3
allele count: 3
allele frequency: 3.684598378776714e-5
allele num: 81420
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.71C>T
  hgvsp: ENSP00000254480.5:p.Ala24Val
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.71C>T
  hgvsp: ENSP00000414266.1:p.Ala24Val
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+295C>T
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18697
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24084
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4060
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ala24Val
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

3-47823217-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823217
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823217
    reference: chr 3
allele count: 2
allele frequency: 2.456398919184476e-5
allele num: 81420
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+295C>A
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.71C>A
  hgvsp: ENSP00000254480.5:p.Ala24Glu
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.71C>A
  hgvsp: ENSP00000414266.1:p.Ala24Glu
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18697
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 671
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genotype quality: GenotypeQuality
  all individuals: 35
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 13224
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 842
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 4060
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala24Glu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

3-47823221-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823221
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823221
    reference: chr 3
allele count: 1
allele frequency: 1.187620246549963e-5
allele num: 84202
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.67G>A
  hgvsp: ENSP00000254480.5:p.Ala23Thr
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.67G>A
  hgvsp: ENSP00000414266.1:p.Ala23Thr
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+291G>A
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22577
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8499
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  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: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31824
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 13024
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 214
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genotype quality: GenotypeQuality
  all individuals: 17
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 171
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genotype quality: GenotypeQuality
  all individuals: 2304
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genotype quality: GenotypeQuality
  all individuals: 493
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala23Thr
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum

3-47823231-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823231
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823231
    reference: chr 3
allele count: 1
allele frequency: 1.314060446780552e-5
allele num: 76100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.57G>A
  hgvsp: ENST00000454240.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.57G>A
  hgvsp: ENST00000254480.5:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+281G>A
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1030
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genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser19Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP

3-47823241-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823241
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823241
    reference: chr 3
allele count: 1
allele frequency: 1.769473050925435e-5
allele num: 56514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+271C>T
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.47C>T
  hgvsp: ENSP00000254480.5:p.Ala16Val
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.47C>T
  hgvsp: ENSP00000414266.1:p.Ala16Val
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20674
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 1.75e1
  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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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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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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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 1357
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2615
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3243
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genotype quality: GenotypeQuality
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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: 805
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala16Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

3-47823244-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823244
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823244
    reference: chr 3
allele count: 1
allele frequency: 1.96232339089482e-5
allele num: 50960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+268G>C
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.44G>C
  hgvsp: ENSP00000414266.1:p.Gly15Ala
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.44G>C
  hgvsp: ENSP00000254480.5:p.Gly15Ala
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18454
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13556
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24703
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly15Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

3-47823247-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47823247
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47823247
    reference: chr 3
allele count: 1
allele frequency: 2.378573807145236e-5
allele num: 42042
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000254480
  ensembl transcript: ENST00000254480
  gene symbol: SMARCC1
  hgvsc: ENST00000254480.5:c.41T>C
  hgvsp: ENSP00000254480.5:p.Val14Ala
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000173473
  ensembl transcript: ENST00000425518
  gene symbol: SMARCC1
  hgvsc: ENST00000425518.1:n.85+265T>C
  variant of: http://identifiers.org/hgnc/11104
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000173473
  ensembl protein: ENSP00000414266
  ensembl transcript: ENST00000454240
  gene symbol: SMARCC1
  hgvsc: ENST00000454240.1:c.41T>C
  hgvsp: ENSP00000414266.1:p.Val14Ala
  variant of: http://identifiers.org/hgnc/11104
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14387
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15457
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 2.25e1
  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: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19574
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val14Ala
num of homozygotes: 0
population: European (Non-Finnish)
reference allele: A

GenotypeQuality
all individuals: 4158
bin: 8.25e1
variant carriers: 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: 11574
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.844675124951942e-4
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15848
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66428
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

DP
type: SiteQuality
SIO_000300: 2.310824e6

FS
type: SiteQuality
SIO_000300: 1.348e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.633e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

GenotypeQuality
all individuals: 15286
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66440
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15870
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: 904
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.389e1

VQSLOD
type: SiteQuality
SIO_000300: 5.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.23e0

DP
type: SiteQuality
SIO_000300: 2.313145e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.043e0

GenotypeQuality
all individuals: 584
bin: 2.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.311537490532694e-5
allele num: 15844
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: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66422
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.313813e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.809e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.736e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.84e-1

QD
type: SiteQuality
SIO_000300: 7.26e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 1.9111e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.21e-1

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504709741490866e-5
allele num: 66458
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: 11574
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: 1.62e-1

DP
type: SiteQuality
SIO_000300: 2.316697e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.43e-1

FS
type: SiteQuality
SIO_000300: 6.861e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.282e0

QD
type: SiteQuality
SIO_000300: 7.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.048e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.02e-1

GenotypeQuality
all individuals: 509
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504709741490866e-5
allele num: 66458
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: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15898
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 7.6e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.282e0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

FS
type: SiteQuality
SIO_000300: 6.861e0

VQSLOD
type: SiteQuality
SIO_000300: -7.048e-1

DP
type: SiteQuality
SIO_000300: 2.316697e6

GenotypeQuality
all individuals: 4275
bin: 7.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.243756243756244e-5
allele num: 16016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.774e0

FS
type: SiteQuality
SIO_000300: 6.765e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

VQSLOD
type: SiteQuality
SIO_000300: 1.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.45e-1

DP
type: SiteQuality
SIO_000300: 2.327353e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.64e-1

QD
type: SiteQuality
SIO_000300: 1.092e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4281
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16056
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503397678753984e-5
allele num: 66516
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.092e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e0

QD
type: SiteQuality
SIO_000300: 1.157e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.327781e6

MQRankSum
type: SiteQuality
SIO_000300: -9.45e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.793e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 17558
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
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

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

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

South Asian
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allele frequency: 6.130456105934282e-5
allele num: 16312
num of homozygotes: 0

FS
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SIO_000300: 1.644e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.38e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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DP
type: SiteQuality
SIO_000300: 2.337906e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
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allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.844e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 2.339408e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.85e-1

QD
type: SiteQuality
SIO_000300: 1.584e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
allele num: 10404
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

QD
type: SiteQuality
SIO_000300: 1.368e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 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
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

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

South Asian
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allele frequency: 6.094588005850804e-5
allele num: 16408
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.764e1

ClippingRankSum
type: SiteQuality
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QD
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

DP
type: SiteQuality
SIO_000300: 2.340559e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

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

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

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

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

South Asian
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allele frequency: 0.0e0
allele num: 16430
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MQ
type: SiteQuality
SIO_000300: 5.904e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.963e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.341075e6

QD
type: SiteQuality
SIO_000300: 9.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.45e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

DP
type: SiteQuality
SIO_000300: 2.341987e6

FS
type: SiteQuality
SIO_000300: 5.337e0

MQRankSum
type: SiteQuality
SIO_000300: -7.05e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 10404
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

Other
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allele count: 0
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allele num: 906
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.107e1

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.821e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
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: 8654
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.906e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.603e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.862e1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 2.341727e6

QD
type: SiteQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
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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: 0
allele frequency: 0.0e0
allele num: 66704
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 0
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allele num: 8654
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

Other
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allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

African
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allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

InbreedingCoeff
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VQSLOD
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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QD
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MQ
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FS
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BaseQRankSum
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQ
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VQSLOD
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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DP
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QD
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

QD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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MQ
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

East Asian
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South Asian
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allele frequency: 6.05766900896535e-5
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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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DP
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FS
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VQSLOD
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MQ
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ReadPosRankSum
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QD
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InbreedingCoeff
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
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allele num: 16508
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

ClippingRankSum
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QD
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MQ
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DP
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FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 4.6e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

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

African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.339531e6

VQSLOD
type: SiteQuality
SIO_000300: -1.921e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.93e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 1.153e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.697e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.338818e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.312e0

InbreedingCoeff
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SIO_000300: -1.0e-4

QD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.326e0

MQRankSum
type: SiteQuality
SIO_000300: -6.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.671e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.398e1

DP
type: SiteQuality
SIO_000300: 2.338439e6

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.895e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.0e-3

DP
type: SiteQuality
SIO_000300: 2.337092e6

MQRankSum
type: SiteQuality
SIO_000300: 9.89e-1

FS
type: SiteQuality
SIO_000300: 9.353999999999999e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.999220202747286e-5
allele num: 66684
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16488
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

DP
type: SiteQuality
SIO_000300: 2.336396e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

QD
type: SiteQuality
SIO_000300: 1.404e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.754e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
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allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
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 (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
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MQRankSum
type: SiteQuality
SIO_000300: 4.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

DP
type: SiteQuality
SIO_000300: 2.336113e6

QD
type: SiteQuality
SIO_000300: 1.375e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 2.906e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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: 906
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.39e-1

QD
type: SiteQuality
SIO_000300: 1.537e1

FS
type: SiteQuality
SIO_000300: 1.048e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e0

DP
type: SiteQuality
SIO_000300: 2.33373e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.868e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 19952
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

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

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

South Asian
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allele count: 1
allele frequency: 6.078288353999514e-5
allele num: 16452
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.351e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.332582e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.95e-1

QD
type: SiteQuality
SIO_000300: 1.095e1

VQSLOD
type: SiteQuality
SIO_000300: 9.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.471418653089562e-4
allele num: 8642
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

South Asian
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allele count: 0
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.331877e6

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.81e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 5.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

African
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allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
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East 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 count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

Other
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MQRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 5.92e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.858e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.272e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Latino
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allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
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South Asian
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allele frequency: 2.437241043139166e-4
allele num: 16412
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Other
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allele frequency: 2.207505518763797e-3
allele num: 906
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.942e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.328494e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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African
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East Asian
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allele count: 0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11550
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European (Non-Finnish)
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allele count: 8
allele frequency: 1.203188449390886e-4
allele num: 66490
num of homozygotes: 0

South Asian
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.322517e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.016409266409266e-5
allele num: 66304
num of homozygotes: 0

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

Latino
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East Asian
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allele count: 0
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South Asian
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allele count: 0
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European (Finnish)
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allele count: 0
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allele num: 6600
num of homozygotes: 0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
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QD
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 2.304469e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.508341126429153e-5
allele num: 66298
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European (Finnish)
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allele count: 0
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Other
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allele num: 902
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
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African
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQRankSum
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QD
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DP
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MQ
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.665511265164645e-5
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South Asian
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East Asian
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BaseQRankSum
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MQ
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DP
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ClippingRankSum
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FS
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InbreedingCoeff
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VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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European (Finnish)
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Latino
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African
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South Asian
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East Asian
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European (Non-Finnish)
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Other
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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FS
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ClippingRankSum
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QD
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MQ
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GenotypeQuality
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South Asian
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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Latino
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Other
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MQRankSum
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BaseQRankSum
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DP
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VQSLOD
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QD
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQ
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
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African
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allele frequency: 3.526093088857546e-4
allele num: 2836
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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Other
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ClippingRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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VQSLOD
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QD
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DP
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

East Asian
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African
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Latino
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Other
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DP
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QD
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MQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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FS
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
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Other
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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African
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South Asian
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InbreedingCoeff
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FS
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QD
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DP
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BaseQRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQ
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Latino
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Other
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East Asian
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African
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VQSLOD
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MQ
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QD
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MQRankSum
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DP
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ReadPosRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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East Asian
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African
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Other
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Latino
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European (Finnish)
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South Asian
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European (Non-Finnish)
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VQSLOD
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MQ
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InbreedingCoeff
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QD
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DP
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BaseQRankSum
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MQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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European (Finnish)
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Other
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South Asian
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African
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East Asian
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Latino
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European (Non-Finnish)
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QD
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MQ
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FS
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Latino
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African
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East Asian
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Other
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European (Finnish)
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VQSLOD
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DP
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQRankSum
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QD
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MQ
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ClippingRankSum
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GenotypeQuality
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East Asian
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Latino
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African
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allele frequency: 0.0e0
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European (Finnish)
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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: 0.0e0
allele num: 45878
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 2.259036144578313e-4
allele num: 13280
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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MQ
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ClippingRankSum
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FS
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InbreedingCoeff
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QD
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 1.693193362682018e-4
allele num: 5906
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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
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ClippingRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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FS
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QD
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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African
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.072987943955686e-5
allele num: 49104
num of homozygotes: 0

MQRankSum
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FS
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MQ
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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DP
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 50270
num of homozygotes: 0

South Asian
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allele frequency: 7.154099298898269e-5
allele num: 13978
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
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MQRankSum
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DP
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ClippingRankSum
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FS
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BaseQRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 53436
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African
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allele frequency: 1.495662578522285e-4
allele num: 6686
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Other
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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FS
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QD
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MQ
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5312
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.776640727712042e-5
allele num: 56286
num of homozygotes: 0

African
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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East Asian
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allele frequency: 0.0e0
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ReadPosRankSum
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FS
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
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ClippingRankSum
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.293e1

DP
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SIO_000300: 1.210167e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.66e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 10902
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5994
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African
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.66761164659974e-5
allele num: 59966
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Other
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MQRankSum
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ClippingRankSum
type: SiteQuality
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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QD
type: SiteQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 15902
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European (Non-Finnish)
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allele frequency: 1.654588173003739e-5
allele num: 60438
num of homozygotes: 0

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

East Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 6.608730132505039e-5
allele num: 60526
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South Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6128
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Latino
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allele frequency: 0.0e0
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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FS
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VQSLOD
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MQRankSum
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MQ
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DP
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QD
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.938759383642829e-5
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African
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Latino
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East Asian
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BaseQRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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FS
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QD
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MQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
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East Asian
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South Asian
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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: 9.796878061524395e-5
allele num: 61244
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Other
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allele frequency: 0.0e0
allele num: 820
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European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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VQSLOD
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FS
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MQRankSum
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MQ
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GenotypeQuality
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African
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South Asian
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Other
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Latino
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DP
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BaseQRankSum
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MQ
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ClippingRankSum
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FS
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InbreedingCoeff
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VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

Latino
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Other
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East Asian
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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QD
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VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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DP
type: SiteQuality
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GenotypeQuality
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Other
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South Asian
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African
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Latino
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East Asian
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European (Non-Finnish)
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European (Finnish)
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DP
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InbreedingCoeff
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MQ
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FS
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QD
type: SiteQuality
SIO_000300: 1.086e1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.222e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.018759018759019e-5
allele num: 11088
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16068
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.99e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.304715e6

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.779e0

QD
type: SiteQuality
SIO_000300: 1.429e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

African
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allele count: 1
allele frequency: 1.196172248803828e-4
allele num: 8360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61098
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11082
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6224
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e-1

DP
type: SiteQuality
SIO_000300: 1.303769e6

MQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.67e-1

FS
type: SiteQuality
SIO_000300: 5.514e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.69e-1

QD
type: SiteQuality
SIO_000300: 1.449e1

VQSLOD
type: SiteQuality
SIO_000300: -1.039e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15962
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60812
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.214771622934888e-4
allele num: 8232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8284
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.276e0

VQSLOD
type: SiteQuality
SIO_000300: -2.918e0

FS
type: SiteQuality
SIO_000300: 4.593e0

QD
type: SiteQuality
SIO_000300: 8.550000000000001e0

DP
type: SiteQuality
SIO_000300: 1.282241e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.339e0

MQ
type: SiteQuality
SIO_000300: 5.833e1

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15914
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 9.100837277029486e-5
allele num: 10988
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

FS
type: SiteQuality
SIO_000300: 4.208e0

VQSLOD
type: SiteQuality
SIO_000300: 5.610000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.401e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.269592e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 8.94e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.664115023630433e-5
allele num: 60092
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10904
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6026
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15816
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7978
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.126e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.02e-1

QD
type: SiteQuality
SIO_000300: 1.099e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

DP
type: SiteQuality
SIO_000300: 1.246561e6

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: 5.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 18
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47328
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.957005704744678e-5
allele num: 14374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6664
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 6.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

FS
type: SiteQuality
SIO_000300: 3.802e0

VQSLOD
type: SiteQuality
SIO_000300: -1.414e0

MQRankSum
type: SiteQuality
SIO_000300: -1.309e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

DP
type: SiteQuality
SIO_000300: 9.33703e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1604
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14004
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5142
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.117218572641552e-4
allele num: 44754
num of homozygotes: 1

Latino
type: Population
allele count: 1
allele frequency: 1.277139208173691e-4
allele num: 7830
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

DP
type: SiteQuality
SIO_000300: 8.95502e5

FS
type: SiteQuality
SIO_000300: 2.46e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.188e-1

QD
type: SiteQuality
SIO_000300: 1.748e1

MQRankSum
type: SiteQuality
SIO_000300: 9.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.595e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5188
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.625487646293888e-4
allele num: 6152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 4.502476361999099e-5
allele num: 44420
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7884
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.65548e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e-1

QD
type: SiteQuality
SIO_000300: 8.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.528e0

FS
type: SiteQuality
SIO_000300: 1.001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.52e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

GenotypeQuality
all individuals: 1954
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7884
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African
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allele frequency: 3.855050115651503e-4
allele num: 5188
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13874
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3302
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 44420
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.28e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.001e0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

DP
type: SiteQuality
SIO_000300: 8.65548e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.52e-2

QD
type: SiteQuality
SIO_000300: 8.94e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8184
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 45608
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5686
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4020
num of homozygotes: 0

South Asian
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allele frequency: 7.296074711805048e-5
allele num: 13706
num of homozygotes: 0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.44e-2

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.874e1

FS
type: SiteQuality
SIO_000300: 1.8131e1

DP
type: SiteQuality
SIO_000300: 8.32064e5

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
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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: 7224
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.67341927562922e-5
allele num: 13032
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5002
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 41178
num of homozygotes: 0

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 7.16836e5

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 4636
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2326
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 3882
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 2.847380410022779e-4
allele num: 3512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30346
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.460000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

DP
type: SiteQuality
SIO_000300: 5.7953e5

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 372
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African
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allele frequency: 0.0e0
allele num: 3090
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Latino
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allele frequency: 2.569373072970195e-4
allele num: 3892
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3370
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2162
num of homozygotes: 0

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

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 4.455533772945999e-5
allele num: 22444
num of homozygotes: 0