7-138602815-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138602815
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 138602815
    reference: chr 7
allele count: 1
allele frequency: 9.351912466099317e-6
allele num: 106930
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122778
  ensembl protein: ENSP00000406661
  ensembl transcript: ENST00000440172
  gene symbol: KIAA1549
  hgvsc: ENST00000440172.1:c.1557A>C
  hgvsp: ENST00000440172.1:c.1557A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122778
  ensembl protein: ENSP00000242365
  ensembl transcript: ENST00000242365
  gene symbol: KIAA1549
  hgvsc: ENST00000242365.4:c.1407A>C
  hgvsp: ENST00000242365.4:c.1407A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122778
  ensembl protein: ENSP00000416040
  ensembl transcript: ENST00000422774
  gene symbol: KIAA1549
  hgvsc: ENST00000422774.1:c.1557A>C
  hgvsp: ENST00000422774.1:c.1557A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22219
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 30450
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr519Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

7-138602816-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138602816
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 138602816
    reference: chr 7
allele count: 1
allele frequency: 9.308906761989872e-6
allele num: 107424
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122778
  ensembl protein: ENSP00000242365
  ensembl transcript: ENST00000242365
  gene symbol: KIAA1549
  hgvsc: ENST00000242365.4:c.1406C>T
  hgvsp: ENSP00000242365.4:p.Thr469Ile
  variant of: http://identifiers.org/hgnc/22219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122778
  ensembl protein: ENSP00000406661
  ensembl transcript: ENST00000440172
  gene symbol: KIAA1549
  hgvsc: ENST00000440172.1:c.1556C>T
  hgvsp: ENSP00000406661.1:p.Thr519Ile
  variant of: http://identifiers.org/hgnc/22219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122778
  ensembl protein: ENSP00000416040
  ensembl transcript: ENST00000422774
  gene symbol: KIAA1549
  hgvsc: ENST00000422774.1:c.1556C>T
  hgvsp: ENSP00000416040.1:p.Thr519Ile
  variant of: http://identifiers.org/hgnc/22219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10449
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 7944
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34414
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr519Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

7-138602816-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 138602816
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 138602816
    reference: chr 7
allele count: 1
allele frequency: 9.308906761989872e-6
allele num: 107424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122778
  ensembl protein: ENSP00000242365
  ensembl transcript: ENST00000242365
  gene symbol: KIAA1549
  hgvsc: ENST00000242365.4:c.1406C>A
  hgvsp: ENSP00000242365.4:p.Thr469Lys
  variant of: http://identifiers.org/hgnc/22219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122778
  ensembl protein: ENSP00000406661
  ensembl transcript: ENST00000440172
  gene symbol: KIAA1549
  hgvsc: ENST00000440172.1:c.1556C>A
  hgvsp: ENSP00000406661.1:p.Thr519Lys
  variant of: http://identifiers.org/hgnc/22219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122778
  ensembl protein: ENSP00000416040
  ensembl transcript: ENST00000422774
  gene symbol: KIAA1549
  hgvsc: ENST00000422774.1:c.1556C>A
  hgvsp: ENSP00000416040.1:p.Thr519Lys
  variant of: http://identifiers.org/hgnc/22219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  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: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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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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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr519Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

8-3224561-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224561
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224561
    reference: chr 8
allele count: 1
allele frequency: 9.046662686135085e-6
allele num: 110538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3108A>T
  hgvsp: ENST00000542608.1:c.3108A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3111A>T
  hgvsp: ENST00000602723.1:c.3111A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3111A>T
  hgvsp: ENST00000602557.1:c.3111A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3108A>T
  hgvsp: ENST00000537824.1:c.3108A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.641A>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3111A>T
  hgvsp: ENST00000400186.3:c.3111A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3108A>T
  hgvsp: ENST00000539096.1:c.3108A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3111A>T
  hgvsp: ENST00000520002.1:c.3111A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1549A>T
  hgvsp: ENST00000335551.7:c.1549A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23607
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
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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: 366
  bin: 8.25e1
  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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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr1036Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD

8-3224561-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224561
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224561
    reference: chr 8
allele count: 16
allele frequency: 1.447466029781614e-4
allele num: 110538
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3108A>C
  hgvsp: ENST00000537824.1:c.3108A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1549A>C
  hgvsp: ENST00000335551.7:c.1549A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3111A>C
  hgvsp: ENST00000602557.1:c.3111A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3111A>C
  hgvsp: ENST00000520002.1:c.3111A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3111A>C
  hgvsp: ENST00000602723.1:c.3111A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.641A>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3108A>C
  hgvsp: ENST00000542608.1:c.3108A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3108A>C
  hgvsp: ENST00000539096.1:c.3108A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3111A>C
  hgvsp: ENST00000400186.3:c.3111A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9439
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23607
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2451
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21403
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr1036Thr
num of homozygotes: 1
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

8-3224564-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224564
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224564
    reference: chr 8
allele count: 2
allele frequency: 1.785937527905274e-5
allele num: 111986
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3108C>G
  hgvsp: ENSP00000383047.3:p.Ile1036Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1546C>G
  hgvsp: ENSP00000334828.6:p.Ile516Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3105C>G
  hgvsp: ENSP00000441462.1:p.Ile1035Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3105C>G
  hgvsp: ENSP00000441675.1:p.Ile1035Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3108C>G
  hgvsp: ENSP00000473359.1:p.Ile1036Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3108C>G
  hgvsp: ENSP00000473617.1:p.Ile1036Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3108C>G
  hgvsp: ENSP00000430733.1:p.Ile1036Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.638C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3105C>G
  hgvsp: ENSP00000446243.1:p.Ile1035Met
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13110
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5623
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile1035Met
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

8-3224567-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224567
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224567
    reference: chr 8
allele count: 4
allele frequency: 3.549812747377575e-5
allele num: 112682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3105T>A
  hgvsp: ENSP00000383047.3:p.Asn1035Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3102T>A
  hgvsp: ENSP00000441675.1:p.Asn1034Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.635T>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1543T>A
  hgvsp: ENSP00000334828.6:p.Asn515Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3102T>A
  hgvsp: ENSP00000446243.1:p.Asn1034Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3105T>A
  hgvsp: ENSP00000473617.1:p.Asn1035Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3102T>A
  hgvsp: ENSP00000441462.1:p.Asn1034Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3105T>A
  hgvsp: ENSP00000473359.1:p.Asn1035Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3105T>A
  hgvsp: ENSP00000430733.1:p.Asn1035Lys
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13230
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn1034Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP

8-3224569-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224569
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224569
    reference: chr 8
allele count: 5
allele frequency: 4.420319323867956e-5
allele num: 113114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3103A>C
  hgvsp: ENSP00000383047.3:p.Asn1035His
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3100A>C
  hgvsp: ENSP00000441462.1:p.Asn1034His
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1541A>C
  hgvsp: ENSP00000334828.6:p.Asn515His
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3100A>C
  hgvsp: ENSP00000446243.1:p.Asn1034His
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3103A>C
  hgvsp: ENSP00000473359.1:p.Asn1035His
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3103A>C
  hgvsp: ENSP00000473617.1:p.Asn1035His
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.633A>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3103A>C
  hgvsp: ENSP00000430733.1:p.Asn1035His
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3100A>C
  hgvsp: ENSP00000441675.1:p.Asn1034His
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27595
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13314
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5645
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn1034His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ

8-3224570-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224570
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224570
    reference: chr 8
allele count: 1
allele frequency: 8.833922261484099e-6
allele num: 113200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3102C>T
  hgvsp: ENST00000520002.1:c.3102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3102C>T
  hgvsp: ENST00000400186.3:c.3102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1540C>T
  hgvsp: ENST00000335551.7:c.1540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3099C>T
  hgvsp: ENST00000542608.1:c.3099C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3102C>T
  hgvsp: ENST00000602723.1:c.3102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3102C>T
  hgvsp: ENST00000602557.1:c.3102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3099C>T
  hgvsp: ENST00000537824.1:c.3099C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.632C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3099C>T
  hgvsp: ENST00000539096.1:c.3099C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27761
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe1033Phe
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

8-3224573-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224573
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224573
    reference: chr 8
allele count: 1
allele frequency: 8.788890841975743e-6
allele num: 113780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3099C>T
  hgvsp: ENST00000602723.1:c.3099C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.629C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3099C>T
  hgvsp: ENST00000520002.1:c.3099C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3096C>T
  hgvsp: ENST00000537824.1:c.3096C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3099C>T
  hgvsp: ENST00000602557.1:c.3099C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3099C>T
  hgvsp: ENST00000400186.3:c.3099C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3096C>T
  hgvsp: ENST00000542608.1:c.3096C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3096C>T
  hgvsp: ENST00000539096.1:c.3096C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1537C>T
  hgvsp: ENST00000335551.7:c.1537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly1032Gly
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

8-3224579-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224579
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224579
    reference: chr 8
allele count: 3
allele frequency: 2.614971583975454e-5
allele num: 114724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3093C>T
  hgvsp: ENST00000602723.1:c.3093C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3090C>T
  hgvsp: ENST00000537824.1:c.3090C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3093C>T
  hgvsp: ENST00000602557.1:c.3093C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.623C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3090C>T
  hgvsp: ENST00000542608.1:c.3090C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1531C>T
  hgvsp: ENST00000335551.7:c.1531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3093C>T
  hgvsp: ENST00000400186.3:c.3093C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3090C>T
  hgvsp: ENST00000539096.1:c.3090C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3093C>T
  hgvsp: ENST00000520002.1:c.3093C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr1030Tyr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum

8-3224580-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224580
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224580
    reference: chr 8
allele count: 1
allele frequency: 8.697316008279845e-6
allele num: 114978
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3092A>G
  hgvsp: ENSP00000473359.1:p.Tyr1031Cys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3092A>G
  hgvsp: ENSP00000473617.1:p.Tyr1031Cys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3089A>G
  hgvsp: ENSP00000446243.1:p.Tyr1030Cys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.622A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1530A>G
  hgvsp: ENSP00000334828.6:p.Tyr511Cys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3089A>G
  hgvsp: ENSP00000441462.1:p.Tyr1030Cys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3092A>G
  hgvsp: ENSP00000383047.3:p.Tyr1031Cys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3092A>G
  hgvsp: ENSP00000430733.1:p.Tyr1031Cys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3089A>G
  hgvsp: ENSP00000441675.1:p.Tyr1030Cys
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29386
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3489
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr1030Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

8-3224582-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224582
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224582
    reference: chr 8
allele count: 192
allele frequency: 1.66675347674358e-3
allele num: 115194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3087G>A
  hgvsp: ENST00000542608.1:c.3087G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3087G>A
  hgvsp: ENST00000539096.1:c.3087G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1528G>A
  hgvsp: ENST00000335551.7:c.1528G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3090G>A
  hgvsp: ENST00000602557.1:c.3090G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.620G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3090G>A
  hgvsp: ENST00000520002.1:c.3090G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3090G>A
  hgvsp: ENST00000400186.3:c.3090G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3090G>A
  hgvsp: ENST00000602723.1:c.3090G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3087G>A
  hgvsp: ENST00000537824.1:c.3087G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 3.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14250
  bin: 2.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 29512
  bin: 2.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 3.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Ser1029Ser
num of homozygotes: 2
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

8-3224583-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224583
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224583
    reference: chr 8
allele count: 1
allele frequency: 8.672575581496193e-6
allele num: 115306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1527C>T
  hgvsp: ENSP00000334828.6:p.Ser510Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.619C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3089C>T
  hgvsp: ENSP00000473617.1:p.Ser1030Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3086C>T
  hgvsp: ENSP00000441675.1:p.Ser1029Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3086C>T
  hgvsp: ENSP00000446243.1:p.Ser1029Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3089C>T
  hgvsp: ENSP00000430733.1:p.Ser1030Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3089C>T
  hgvsp: ENSP00000473359.1:p.Ser1030Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3089C>T
  hgvsp: ENSP00000383047.3:p.Ser1030Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3086C>T
  hgvsp: ENSP00000441462.1:p.Ser1029Leu
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser1029Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum

8-3224587-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224587
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224587
    reference: chr 8
allele count: 2
allele frequency: 1.728190239181529e-5
allele num: 115728
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3085A>C
  hgvsp: ENSP00000473617.1:p.Ile1029Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3085A>C
  hgvsp: ENSP00000473359.1:p.Ile1029Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3082A>C
  hgvsp: ENSP00000446243.1:p.Ile1028Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3082A>C
  hgvsp: ENSP00000441462.1:p.Ile1028Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1523A>C
  hgvsp: ENSP00000334828.6:p.Ile509Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3082A>C
  hgvsp: ENSP00000441675.1:p.Ile1028Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3085A>C
  hgvsp: ENSP00000430733.1:p.Ile1029Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.615A>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3085A>C
  hgvsp: ENSP00000383047.3:p.Ile1029Leu
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile1028Leu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

8-3224588-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224588
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224588
    reference: chr 8
allele count: 1
allele frequency: 8.634087376964255e-6
allele num: 115820
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3084A>G
  hgvsp: ENST00000602557.1:c.3084A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.614A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3081A>G
  hgvsp: ENST00000539096.1:c.3081A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3084A>G
  hgvsp: ENST00000520002.1:c.3084A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3081A>G
  hgvsp: ENST00000537824.1:c.3081A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1522A>G
  hgvsp: ENST00000335551.7:c.1522A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3084A>G
  hgvsp: ENST00000602723.1:c.3084A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3081A>G
  hgvsp: ENST00000542608.1:c.3081A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3084A>G
  hgvsp: ENST00000400186.3:c.3084A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser1027Ser
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

8-3224591-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224591
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224591
    reference: chr 8
allele count: 1
allele frequency: 8.614451604010888e-6
allele num: 116084
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.611C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3081C>G
  hgvsp: ENSP00000473359.1:p.Phe1027Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3081C>G
  hgvsp: ENSP00000473617.1:p.Phe1027Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3078C>G
  hgvsp: ENSP00000446243.1:p.Phe1026Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3081C>G
  hgvsp: ENSP00000383047.3:p.Phe1027Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1519C>G
  hgvsp: ENSP00000334828.6:p.Phe507Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3081C>G
  hgvsp: ENSP00000430733.1:p.Phe1027Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3078C>G
  hgvsp: ENSP00000441675.1:p.Phe1026Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3078C>G
  hgvsp: ENSP00000441462.1:p.Phe1026Leu
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41746
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe1026Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

8-3224591-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224591
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224591
    reference: chr 8
allele count: 1
allele frequency: 8.614451604010888e-6
allele num: 116084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3078C>A
  hgvsp: ENSP00000446243.1:p.Phe1026Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3081C>A
  hgvsp: ENSP00000473359.1:p.Phe1027Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3081C>A
  hgvsp: ENSP00000430733.1:p.Phe1027Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.611C>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1519C>A
  hgvsp: ENSP00000334828.6:p.Phe507Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3078C>A
  hgvsp: ENSP00000441675.1:p.Phe1026Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3081C>A
  hgvsp: ENSP00000383047.3:p.Phe1027Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3081C>A
  hgvsp: ENSP00000473617.1:p.Phe1027Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3078C>A
  hgvsp: ENSP00000441462.1:p.Phe1026Leu
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe1026Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

8-3224607-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224607
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224607
    reference: chr 8
allele count: 1
allele frequency: 8.573094201159083e-6
allele num: 116644
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1503G>A
  hgvsp: ENSP00000334828.6:p.Arg502Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.595G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3065G>A
  hgvsp: ENSP00000473617.1:p.Arg1022Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3062G>A
  hgvsp: ENSP00000446243.1:p.Arg1021Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3065G>A
  hgvsp: ENSP00000383047.3:p.Arg1022Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3062G>A
  hgvsp: ENSP00000441462.1:p.Arg1021Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3062G>A
  hgvsp: ENSP00000441675.1:p.Arg1021Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3065G>A
  hgvsp: ENSP00000473359.1:p.Arg1022Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3065G>A
  hgvsp: ENSP00000430733.1:p.Arg1022Gln
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40344
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg1021Gln
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

8-3224608-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224608
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224608
    reference: chr 8
allele count: 1
allele frequency: 8.561937052638789e-6
allele num: 116796
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3061C>T
  hgvsp: ENSP00000446243.1:p.Arg1021Trp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3064C>T
  hgvsp: ENSP00000473617.1:p.Arg1022Trp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3061C>T
  hgvsp: ENSP00000441675.1:p.Arg1021Trp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3064C>T
  hgvsp: ENSP00000473359.1:p.Arg1022Trp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1502C>T
  hgvsp: ENSP00000334828.6:p.Arg502Trp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3064C>T
  hgvsp: ENSP00000430733.1:p.Arg1022Trp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3061C>T
  hgvsp: ENSP00000441462.1:p.Arg1021Trp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.594C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3064C>T
  hgvsp: ENSP00000383047.3:p.Arg1022Trp
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15497
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg1021Trp
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-3224609-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224609
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224609
    reference: chr 8
allele count: 13
allele frequency: 1.112118671617021e-4
allele num: 116894
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3060T>G
  hgvsp: ENST00000542608.1:c.3060T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3060T>G
  hgvsp: ENST00000539096.1:c.3060T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1501T>G
  hgvsp: ENST00000335551.7:c.1501T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3063T>G
  hgvsp: ENST00000520002.1:c.3063T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3063T>G
  hgvsp: ENST00000400186.3:c.3063T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.593T>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3060T>G
  hgvsp: ENST00000537824.1:c.3060T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3063T>G
  hgvsp: ENST00000602557.1:c.3063T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3063T>G
  hgvsp: ENST00000602723.1:c.3063T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29833
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15546
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4620
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42029
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5742
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu1020Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

8-3224625-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224625
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224625
    reference: chr 8
allele count: 1
allele frequency: 8.528202766548977e-6
allele num: 117258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3047A>G
  hgvsp: ENSP00000383047.3:p.Asn1016Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3047A>G
  hgvsp: ENSP00000473617.1:p.Asn1016Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.577A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1485A>G
  hgvsp: ENSP00000334828.6:p.Asn496Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3044A>G
  hgvsp: ENSP00000441675.1:p.Asn1015Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3044A>G
  hgvsp: ENSP00000446243.1:p.Asn1015Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3047A>G
  hgvsp: ENSP00000473359.1:p.Asn1016Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3047A>G
  hgvsp: ENSP00000430733.1:p.Asn1016Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3044A>G
  hgvsp: ENSP00000441462.1:p.Asn1015Ser
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29425
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn1015Ser
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: T
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

8-3224628-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224628
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224628
    reference: chr 8
allele count: 1
allele frequency: 8.532860044029558e-6
allele num: 117194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3044G>A
  hgvsp: ENSP00000473617.1:p.Gly1015Glu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3044G>A
  hgvsp: ENSP00000473359.1:p.Gly1015Glu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3041G>A
  hgvsp: ENSP00000441675.1:p.Gly1014Glu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.574G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1482G>A
  hgvsp: ENSP00000334828.6:p.Gly495Glu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3041G>A
  hgvsp: ENSP00000441462.1:p.Gly1014Glu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3041G>A
  hgvsp: ENSP00000446243.1:p.Gly1014Glu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3044G>A
  hgvsp: ENSP00000383047.3:p.Gly1015Glu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3044G>A
  hgvsp: ENSP00000430733.1:p.Gly1015Glu
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29079
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5615
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly1014Glu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

8-3224632-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224632
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224632
    reference: chr 8
allele count: 1
allele frequency: 8.531404098486529e-6
allele num: 117214
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1478T>C
  hgvsp: ENSP00000334828.6:p.Phe494Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3040T>C
  hgvsp: ENSP00000430733.1:p.Phe1014Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3040T>C
  hgvsp: ENSP00000473617.1:p.Phe1014Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3037T>C
  hgvsp: ENSP00000441675.1:p.Phe1013Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3040T>C
  hgvsp: ENSP00000473359.1:p.Phe1014Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3040T>C
  hgvsp: ENSP00000383047.3:p.Phe1014Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3037T>C
  hgvsp: ENSP00000441462.1:p.Phe1013Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.570T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3037T>C
  hgvsp: ENSP00000446243.1:p.Phe1013Leu
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5617
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2847
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe1013Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

8-3224633-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224633
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224633
    reference: chr 8
allele count: 1
allele frequency: 8.533151292772421e-6
allele num: 117190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3039G>A
  hgvsp: ENST00000400186.3:c.3039G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3039G>A
  hgvsp: ENST00000520002.1:c.3039G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3036G>A
  hgvsp: ENST00000539096.1:c.3036G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3036G>A
  hgvsp: ENST00000537824.1:c.3036G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3039G>A
  hgvsp: ENST00000602557.1:c.3039G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3036G>A
  hgvsp: ENST00000542608.1:c.3036G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1477G>A
  hgvsp: ENST00000335551.7:c.1477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.569G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3039G>A
  hgvsp: ENST00000602723.1:c.3039G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41085
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu1012Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

8-3224636-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224636
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224636
    reference: chr 8
allele count: 246
allele frequency: 2.100194652187276e-3
allele num: 117132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3036C>T
  hgvsp: ENST00000400186.3:c.3036C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3033C>T
  hgvsp: ENST00000542608.1:c.3033C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3033C>T
  hgvsp: ENST00000537824.1:c.3033C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3036C>T
  hgvsp: ENST00000602557.1:c.3036C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1474C>T
  hgvsp: ENST00000335551.7:c.1474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.566C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3036C>T
  hgvsp: ENST00000602723.1:c.3036C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3033C>T
  hgvsp: ENST00000539096.1:c.3033C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3036C>T
  hgvsp: ENST00000520002.1:c.3036C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 3.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 3.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15763
  bin: 2.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 28503
  bin: 2.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 9.75e1
  variant carriers: 240
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly1011Gly
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

8-3224637-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224637
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224637
    reference: chr 8
allele count: 1
allele frequency: 8.534899202840414e-6
allele num: 117166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3035G>A
  hgvsp: ENSP00000473617.1:p.Gly1012Asp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3035G>A
  hgvsp: ENSP00000383047.3:p.Gly1012Asp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3035G>A
  hgvsp: ENSP00000473359.1:p.Gly1012Asp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3032G>A
  hgvsp: ENSP00000441462.1:p.Gly1011Asp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3032G>A
  hgvsp: ENSP00000446243.1:p.Gly1011Asp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.565G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3032G>A
  hgvsp: ENSP00000441675.1:p.Gly1011Asp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3035G>A
  hgvsp: ENSP00000430733.1:p.Gly1012Asp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1473G>A
  hgvsp: ENSP00000334828.6:p.Gly492Asp
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28512
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly1011Asp
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-3224648-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224648
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224648
    reference: chr 8
allele count: 7
allele frequency: 5.983212814332359e-5
allele num: 116994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3024G>A
  hgvsp: ENST00000400186.3:c.3024G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3024G>A
  hgvsp: ENST00000602723.1:c.3024G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1462G>A
  hgvsp: ENST00000335551.7:c.1462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.554G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3021G>A
  hgvsp: ENST00000542608.1:c.3021G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3021G>A
  hgvsp: ENST00000539096.1:c.3021G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3024G>A
  hgvsp: ENST00000520002.1:c.3024G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3024G>A
  hgvsp: ENST00000602557.1:c.3024G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3021G>A
  hgvsp: ENST00000537824.1:c.3021G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27733
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr1007Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

8-3224649-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224649
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224649
    reference: chr 8
allele count: 1
allele frequency: 8.551393877201984e-6
allele num: 116940
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3023C>G
  hgvsp: ENSP00000473359.1:p.Thr1008Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3023C>G
  hgvsp: ENSP00000473617.1:p.Thr1008Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1461C>G
  hgvsp: ENSP00000334828.6:p.Thr488Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3020C>G
  hgvsp: ENSP00000441675.1:p.Thr1007Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3023C>G
  hgvsp: ENSP00000383047.3:p.Thr1008Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3023C>G
  hgvsp: ENSP00000430733.1:p.Thr1008Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3020C>G
  hgvsp: ENSP00000446243.1:p.Thr1007Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3020C>G
  hgvsp: ENSP00000441462.1:p.Thr1007Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.553C>G
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3579
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5420
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr1007Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

8-3224649-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224649
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224649
    reference: chr 8
allele count: 1
allele frequency: 8.551393877201984e-6
allele num: 116940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.553C>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3020C>A
  hgvsp: ENSP00000441462.1:p.Thr1007Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3023C>A
  hgvsp: ENSP00000473359.1:p.Thr1008Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1461C>A
  hgvsp: ENSP00000334828.6:p.Thr488Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3023C>A
  hgvsp: ENSP00000383047.3:p.Thr1008Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3020C>A
  hgvsp: ENSP00000441675.1:p.Thr1007Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3020C>A
  hgvsp: ENSP00000446243.1:p.Thr1007Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3023C>A
  hgvsp: ENSP00000473617.1:p.Thr1008Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3023C>A
  hgvsp: ENSP00000430733.1:p.Thr1008Lys
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27615
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr1007Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

8-3224649-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224649
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224649
    reference: chr 8
allele count: 4
allele frequency: 3.420557550880794e-5
allele num: 116940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3020C>T
  hgvsp: ENSP00000446243.1:p.Thr1007Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3020C>T
  hgvsp: ENSP00000441675.1:p.Thr1007Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3020C>T
  hgvsp: ENSP00000441462.1:p.Thr1007Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3023C>T
  hgvsp: ENSP00000383047.3:p.Thr1008Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3023C>T
  hgvsp: ENSP00000430733.1:p.Thr1008Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3023C>T
  hgvsp: ENSP00000473359.1:p.Thr1008Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1461C>T
  hgvsp: ENSP00000334828.6:p.Thr488Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.553C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3023C>T
  hgvsp: ENSP00000473617.1:p.Thr1008Met
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15921
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27615
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5420
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr1007Met
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

8-3224650-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224650
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224650
    reference: chr 8
allele count: 2
allele frequency: 1.708817498291182e-5
allele num: 117040
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3022A>G
  hgvsp: ENSP00000473359.1:p.Thr1008Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3022A>G
  hgvsp: ENSP00000383047.3:p.Thr1008Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3019A>G
  hgvsp: ENSP00000441675.1:p.Thr1007Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3019A>G
  hgvsp: ENSP00000446243.1:p.Thr1007Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.552A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3022A>G
  hgvsp: ENSP00000430733.1:p.Thr1008Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3022A>G
  hgvsp: ENSP00000473617.1:p.Thr1008Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1460A>G
  hgvsp: ENSP00000334828.6:p.Thr488Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3019A>G
  hgvsp: ENSP00000441462.1:p.Thr1007Ala
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27664
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15958
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40216
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr1007Ala
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/8-3224651-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224651
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224651
    reference: chr 8
allele count: 2
allele frequency: 1.709577050637672e-5
allele num: 116988
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3021T>G
  hgvsp: ENSP00000383047.3:p.His1007Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3018T>G
  hgvsp: ENSP00000446243.1:p.His1006Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3021T>G
  hgvsp: ENSP00000430733.1:p.His1007Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.551T>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3018T>G
  hgvsp: ENSP00000441675.1:p.His1006Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1459T>G
  hgvsp: ENSP00000334828.6:p.His487Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3018T>G
  hgvsp: ENSP00000441462.1:p.His1006Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3021T>G
  hgvsp: ENSP00000473359.1:p.His1007Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3021T>G
  hgvsp: ENSP00000473617.1:p.His1007Gln
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15914
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39465
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His1006Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

8-3224651-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224651
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224651
    reference: chr 8
allele count: 1
allele frequency: 8.547885253188362e-6
allele num: 116988
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3018T>A
  hgvsp: ENSP00000441462.1:p.His1006Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3021T>A
  hgvsp: ENSP00000473617.1:p.His1007Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3018T>A
  hgvsp: ENSP00000441675.1:p.His1006Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3021T>A
  hgvsp: ENSP00000430733.1:p.His1007Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1459T>A
  hgvsp: ENSP00000334828.6:p.His487Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3021T>A
  hgvsp: ENSP00000473359.1:p.His1007Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3018T>A
  hgvsp: ENSP00000446243.1:p.His1006Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3021T>A
  hgvsp: ENSP00000383047.3:p.His1007Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.551T>A
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His1006Gln
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS

8-3224659-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224659
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224659
    reference: chr 8
allele count: 5
allele frequency: 4.278843685282489e-5
allele num: 116854
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3010T>C
  hgvsp: ENST00000542608.1:c.3010T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1451T>C
  hgvsp: ENST00000335551.7:c.1451T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3013T>C
  hgvsp: ENST00000602723.1:c.3013T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3013T>C
  hgvsp: ENST00000602557.1:c.3013T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.543T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3013T>C
  hgvsp: ENST00000400186.3:c.3013T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3010T>C
  hgvsp: ENST00000537824.1:c.3010T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3010T>C
  hgvsp: ENST00000539096.1:c.3010T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3013T>C
  hgvsp: ENST00000520002.1:c.3013T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27217
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38629
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu1004Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

8-3224662-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224662
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224662
    reference: chr 8
allele count: 1
allele frequency: 8.56091088091773e-6
allele num: 116810
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3007G>C
  hgvsp: ENSP00000446243.1:p.Val1003Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3010G>C
  hgvsp: ENSP00000473359.1:p.Val1004Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1448G>C
  hgvsp: ENSP00000334828.6:p.Val484Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3007G>C
  hgvsp: ENSP00000441675.1:p.Val1003Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.540G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3010G>C
  hgvsp: ENSP00000473617.1:p.Val1004Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3010G>C
  hgvsp: ENSP00000383047.3:p.Val1004Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3007G>C
  hgvsp: ENSP00000441462.1:p.Val1003Leu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3010G>C
  hgvsp: ENSP00000430733.1:p.Val1004Leu
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27187
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val1003Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-3224663-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224663
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224663
    reference: chr 8
allele count: 1
allele frequency: 8.569420878537029e-6
allele num: 116694
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3006G>T
  hgvsp: ENST00000537824.1:c.3006G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3006G>T
  hgvsp: ENST00000539096.1:c.3006G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1447G>T
  hgvsp: ENST00000335551.7:c.1447G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.539G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3006G>T
  hgvsp: ENST00000542608.1:c.3006G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3009G>T
  hgvsp: ENST00000602557.1:c.3009G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3009G>T
  hgvsp: ENST00000400186.3:c.3009G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3009G>T
  hgvsp: ENST00000520002.1:c.3009G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3009G>T
  hgvsp: ENST00000602723.1:c.3009G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15805
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser1002Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

8-3224663-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224663
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224663
    reference: chr 8
allele count: 2
allele frequency: 1.713884175707406e-5
allele num: 116694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3009G>A
  hgvsp: ENST00000602557.1:c.3009G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3009G>A
  hgvsp: ENST00000602723.1:c.3009G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3009G>A
  hgvsp: ENST00000400186.3:c.3009G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3006G>A
  hgvsp: ENST00000537824.1:c.3006G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3006G>A
  hgvsp: ENST00000539096.1:c.3006G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.539G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1447G>A
  hgvsp: ENST00000335551.7:c.1447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3009G>A
  hgvsp: ENST00000520002.1:c.3009G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3006G>A
  hgvsp: ENST00000542608.1:c.3006G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15805
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser1002Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

8-3224666-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224666
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224666
    reference: chr 8
allele count: 1
allele frequency: 8.567218395531339e-6
allele num: 116724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.536G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3003G>A
  hgvsp: ENST00000542608.1:c.3003G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3003G>A
  hgvsp: ENST00000539096.1:c.3003G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3003G>A
  hgvsp: ENST00000537824.1:c.3003G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3006G>A
  hgvsp: ENST00000602557.1:c.3006G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3006G>A
  hgvsp: ENST00000520002.1:c.3006G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3006G>A
  hgvsp: ENST00000400186.3:c.3006G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1444G>A
  hgvsp: ENST00000335551.7:c.1444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3006G>A
  hgvsp: ENST00000602723.1:c.3006G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39365
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly1001Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

8-3224669-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224669
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224669
    reference: chr 8
allele count: 2
allele frequency: 1.71617841390791e-5
allele num: 116538
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.3000C>T
  hgvsp: ENST00000537824.1:c.3000C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.3000C>T
  hgvsp: ENST00000542608.1:c.3000C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.3000C>T
  hgvsp: ENST00000539096.1:c.3000C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1441C>T
  hgvsp: ENST00000335551.7:c.1441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3003C>T
  hgvsp: ENST00000400186.3:c.3003C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.533C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3003C>T
  hgvsp: ENST00000602557.1:c.3003C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3003C>T
  hgvsp: ENST00000520002.1:c.3003C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3003C>T
  hgvsp: ENST00000602723.1:c.3003C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr1000Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

8-3224672-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224672
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224672
    reference: chr 8
allele count: 1
allele frequency: 8.579272477693891e-6
allele num: 116560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2997C>G
  hgvsp: ENST00000539096.1:c.2997C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.530C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1438C>G
  hgvsp: ENST00000335551.7:c.1438C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2997C>G
  hgvsp: ENST00000542608.1:c.2997C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.3000C>G
  hgvsp: ENST00000602723.1:c.3000C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.3000C>G
  hgvsp: ENST00000602557.1:c.3000C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.3000C>G
  hgvsp: ENST00000520002.1:c.3000C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2997C>G
  hgvsp: ENST00000537824.1:c.2997C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.3000C>G
  hgvsp: ENST00000400186.3:c.3000C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu999Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

8-3224674-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224674
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224674
    reference: chr 8
allele count: 1
allele frequency: 8.595939278284938e-6
allele num: 116334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.528C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2995C>G
  hgvsp: ENSP00000441675.1:p.Leu999Val
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2998C>G
  hgvsp: ENSP00000473617.1:p.Leu1000Val
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2998C>G
  hgvsp: ENSP00000383047.3:p.Leu1000Val
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2998C>G
  hgvsp: ENSP00000430733.1:p.Leu1000Val
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2998C>G
  hgvsp: ENSP00000473359.1:p.Leu1000Val
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2995C>G
  hgvsp: ENSP00000446243.1:p.Leu999Val
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1436C>G
  hgvsp: ENSP00000334828.6:p.Leu480Val
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2995C>G
  hgvsp: ENSP00000441462.1:p.Leu999Val
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu999Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

8-3224677-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224677
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224677
    reference: chr 8
allele count: 2
allele frequency: 1.721377790783743e-5
allele num: 116186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2995A>G
  hgvsp: ENSP00000383047.3:p.Arg999Gly
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2992A>G
  hgvsp: ENSP00000441675.1:p.Arg998Gly
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2995A>G
  hgvsp: ENSP00000473359.1:p.Arg999Gly
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2992A>G
  hgvsp: ENSP00000441462.1:p.Arg998Gly
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.525A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2992A>G
  hgvsp: ENSP00000446243.1:p.Arg998Gly
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2995A>G
  hgvsp: ENSP00000473617.1:p.Arg999Gly
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1433A>G
  hgvsp: ENSP00000334828.6:p.Arg479Gly
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2995A>G
  hgvsp: ENSP00000430733.1:p.Arg999Gly
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26349
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg998Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

8-3224680-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224680
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224680
    reference: chr 8
allele count: 1
allele frequency: 8.616826939647745e-6
allele num: 116052
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2992G>A
  hgvsp: ENSP00000430733.1:p.Ala998Thr
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2989G>A
  hgvsp: ENSP00000441675.1:p.Ala997Thr
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2992G>A
  hgvsp: ENSP00000473359.1:p.Ala998Thr
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1430G>A
  hgvsp: ENSP00000334828.6:p.Ala478Thr
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2989G>A
  hgvsp: ENSP00000446243.1:p.Ala997Thr
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2992G>A
  hgvsp: ENSP00000473617.1:p.Ala998Thr
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2992G>A
  hgvsp: ENSP00000383047.3:p.Ala998Thr
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.522G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2989G>A
  hgvsp: ENSP00000441462.1:p.Ala997Thr
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15934
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37557
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala997Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/8-3224683-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224683
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224683
    reference: chr 8
allele count: 1
allele frequency: 8.624853377492582e-6
allele num: 115944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2989G>T
  hgvsp: ENSP00000430733.1:p.Val997Phe
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.519G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1427G>T
  hgvsp: ENSP00000334828.6:p.Val477Phe
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2989G>T
  hgvsp: ENSP00000473359.1:p.Val997Phe
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2989G>T
  hgvsp: ENSP00000383047.3:p.Val997Phe
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2986G>T
  hgvsp: ENSP00000441462.1:p.Val996Phe
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2986G>T
  hgvsp: ENSP00000441675.1:p.Val996Phe
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2986G>T
  hgvsp: ENSP00000446243.1:p.Val996Phe
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2989G>T
  hgvsp: ENSP00000473617.1:p.Val997Phe
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1781
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4995
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37618
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val996Phe
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

8-3224683-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224683
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224683
    reference: chr 8
allele count: 1
allele frequency: 8.624853377492582e-6
allele num: 115944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.519G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2989G>A
  hgvsp: ENSP00000473359.1:p.Val997Ile
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2989G>A
  hgvsp: ENSP00000430733.1:p.Val997Ile
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2986G>A
  hgvsp: ENSP00000441462.1:p.Val996Ile
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2986G>A
  hgvsp: ENSP00000446243.1:p.Val996Ile
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2989G>A
  hgvsp: ENSP00000383047.3:p.Val997Ile
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2989G>A
  hgvsp: ENSP00000473617.1:p.Val997Ile
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1427G>A
  hgvsp: ENSP00000334828.6:p.Val477Ile
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2986G>A
  hgvsp: ENSP00000441675.1:p.Val996Ile
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15777
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4499
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val996Ile
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

8-3224689-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224689
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224689
    reference: chr 8
allele count: 1
allele frequency: 8.637816360024186e-6
allele num: 115770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2983G>C
  hgvsp: ENSP00000430733.1:p.Glu995Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2980G>C
  hgvsp: ENSP00000446243.1:p.Glu994Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2983G>C
  hgvsp: ENSP00000473617.1:p.Glu995Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2980G>C
  hgvsp: ENSP00000441462.1:p.Glu994Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2983G>C
  hgvsp: ENSP00000473359.1:p.Glu995Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1421G>C
  hgvsp: ENSP00000334828.6:p.Glu475Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2983G>C
  hgvsp: ENSP00000383047.3:p.Glu995Gln
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.513G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2980G>C
  hgvsp: ENSP00000441675.1:p.Glu994Gln
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4964
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4565
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu994Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

8-3224689-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224689
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224689
    reference: chr 8
allele count: 2
allele frequency: 1.727563272004837e-5
allele num: 115770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2980G>A
  hgvsp: ENSP00000446243.1:p.Glu994Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2983G>A
  hgvsp: ENSP00000383047.3:p.Glu995Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2983G>A
  hgvsp: ENSP00000473359.1:p.Glu995Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.513G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1421G>A
  hgvsp: ENSP00000334828.6:p.Glu475Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2980G>A
  hgvsp: ENSP00000441675.1:p.Glu994Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2983G>A
  hgvsp: ENSP00000473617.1:p.Glu995Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2980G>A
  hgvsp: ENSP00000441462.1:p.Glu994Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2983G>A
  hgvsp: ENSP00000430733.1:p.Glu995Lys
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39452
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu994Lys
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

8-3224690-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224690
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224690
    reference: chr 8
allele count: 1
allele frequency: 8.64274355251331e-6
allele num: 115704
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2979C>T
  hgvsp: ENST00000539096.1:c.2979C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2982C>T
  hgvsp: ENST00000400186.3:c.2982C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2982C>T
  hgvsp: ENST00000602723.1:c.2982C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2979C>T
  hgvsp: ENST00000542608.1:c.2979C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.512C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2982C>T
  hgvsp: ENST00000602557.1:c.2982C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2982C>T
  hgvsp: ENST00000520002.1:c.2982C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1420C>T
  hgvsp: ENST00000335551.7:c.1420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2979C>T
  hgvsp: ENST00000537824.1:c.2979C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4921
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser993Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-3224696-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224696
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224696
    reference: chr 8
allele count: 4
allele frequency: 3.45865181752153e-5
allele num: 115652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2976T>A
  hgvsp: ENSP00000473359.1:p.Ser992Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.506T>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2976T>A
  hgvsp: ENSP00000430733.1:p.Ser992Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2973T>A
  hgvsp: ENSP00000441675.1:p.Ser991Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2976T>A
  hgvsp: ENSP00000473617.1:p.Ser992Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2973T>A
  hgvsp: ENSP00000441462.1:p.Ser991Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2973T>A
  hgvsp: ENSP00000446243.1:p.Ser991Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2976T>A
  hgvsp: ENSP00000383047.3:p.Ser992Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1414T>A
  hgvsp: ENSP00000334828.6:p.Ser472Arg
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15416
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4735
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser991Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

8-3224697-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224697
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224697
    reference: chr 8
allele count: 3
allele frequency: 2.597492553854679e-5
allele num: 115496
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.505G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2975G>C
  hgvsp: ENSP00000383047.3:p.Ser992Thr
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1413G>C
  hgvsp: ENSP00000334828.6:p.Ser472Thr
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2972G>C
  hgvsp: ENSP00000446243.1:p.Ser991Thr
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2972G>C
  hgvsp: ENSP00000441675.1:p.Ser991Thr
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2972G>C
  hgvsp: ENSP00000441462.1:p.Ser991Thr
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2975G>C
  hgvsp: ENSP00000473617.1:p.Ser992Thr
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2975G>C
  hgvsp: ENSP00000473359.1:p.Ser992Thr
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2975G>C
  hgvsp: ENSP00000430733.1:p.Ser992Thr
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser991Thr
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum

8-3224700-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224700
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224700
    reference: chr 8
allele count: 1
allele frequency: 8.664309974353643e-6
allele num: 115416
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2969G>A
  hgvsp: ENSP00000446243.1:p.Gly990Glu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2972G>A
  hgvsp: ENSP00000430733.1:p.Gly991Glu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2969G>A
  hgvsp: ENSP00000441675.1:p.Gly990Glu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2972G>A
  hgvsp: ENSP00000473359.1:p.Gly991Glu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1410G>A
  hgvsp: ENSP00000334828.6:p.Gly471Glu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.502G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2972G>A
  hgvsp: ENSP00000473617.1:p.Gly991Glu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2972G>A
  hgvsp: ENSP00000383047.3:p.Gly991Glu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2969G>A
  hgvsp: ENSP00000441462.1:p.Gly990Glu
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly990Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

8-3224714-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224714
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224714
    reference: chr 8
allele count: 1
allele frequency: 8.740647507167331e-6
allele num: 114408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.488G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2955G>C
  hgvsp: ENST00000542608.1:c.2955G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2958G>C
  hgvsp: ENST00000602723.1:c.2958G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2955G>C
  hgvsp: ENST00000537824.1:c.2955G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2958G>C
  hgvsp: ENST00000400186.3:c.2958G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2958G>C
  hgvsp: ENST00000602557.1:c.2958G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2958G>C
  hgvsp: ENST00000520002.1:c.2958G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1396G>C
  hgvsp: ENST00000335551.7:c.1396G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2955G>C
  hgvsp: ENST00000539096.1:c.2955G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4819
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu985Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

8-3224717-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224717
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224717
    reference: chr 8
allele count: 1
allele frequency: 8.779631255487269e-6
allele num: 113900
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2955A>C
  hgvsp: ENSP00000383047.3:p.Leu985Phe
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2955A>C
  hgvsp: ENSP00000473359.1:p.Leu985Phe
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2955A>C
  hgvsp: ENSP00000430733.1:p.Leu985Phe
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2952A>C
  hgvsp: ENSP00000441462.1:p.Leu984Phe
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2952A>C
  hgvsp: ENSP00000446243.1:p.Leu984Phe
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.485A>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2955A>C
  hgvsp: ENSP00000473617.1:p.Leu985Phe
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2952A>C
  hgvsp: ENSP00000441675.1:p.Leu984Phe
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1393A>C
  hgvsp: ENSP00000334828.6:p.Leu465Phe
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27060
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6613
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4762
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu984Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

8-3224721-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224721
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224721
    reference: chr 8
allele count: 1
allele frequency: 8.802042073761113e-6
allele num: 113610
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2951A>C
  hgvsp: ENSP00000430733.1:p.Tyr984Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2951A>C
  hgvsp: ENSP00000473617.1:p.Tyr984Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2951A>C
  hgvsp: ENSP00000383047.3:p.Tyr984Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1389A>C
  hgvsp: ENSP00000334828.6:p.Tyr464Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2951A>C
  hgvsp: ENSP00000473359.1:p.Tyr984Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2948A>C
  hgvsp: ENSP00000441462.1:p.Tyr983Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.481A>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2948A>C
  hgvsp: ENSP00000441675.1:p.Tyr983Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2948A>C
  hgvsp: ENSP00000446243.1:p.Tyr983Ser
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4952
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26842
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7086
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr983Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

8-3224723-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224723
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224723
    reference: chr 8
allele count: 1
allele frequency: 8.82861885086697e-6
allele num: 113268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2949C>T
  hgvsp: ENST00000520002.1:c.2949C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2949C>T
  hgvsp: ENST00000602723.1:c.2949C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.479C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2946C>T
  hgvsp: ENST00000542608.1:c.2946C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2946C>T
  hgvsp: ENST00000537824.1:c.2946C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2949C>T
  hgvsp: ENST00000602557.1:c.2949C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2949C>T
  hgvsp: ENST00000400186.3:c.2949C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1387C>T
  hgvsp: ENST00000335551.7:c.1387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2946C>T
  hgvsp: ENST00000539096.1:c.2946C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp982Asp
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

8-3224726-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224726
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224726
    reference: chr 8
allele count: 20
allele frequency: 1.773081082997925e-4
allele num: 112798
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2943C>T
  hgvsp: ENST00000537824.1:c.2943C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2943C>T
  hgvsp: ENST00000542608.1:c.2943C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2946C>T
  hgvsp: ENST00000400186.3:c.2946C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.476C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2943C>T
  hgvsp: ENST00000539096.1:c.2943C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2946C>T
  hgvsp: ENST00000520002.1:c.2946C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2946C>T
  hgvsp: ENST00000602723.1:c.2946C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1384C>T
  hgvsp: ENST00000335551.7:c.1384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2946C>T
  hgvsp: ENST00000602557.1:c.2946C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15014
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His981His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

8-3224734-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224734
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224734
    reference: chr 8
allele count: 1
allele frequency: 9.020223340729916e-6
allele num: 110862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1376A>T
  hgvsp: ENSP00000334828.6:p.Ser460Cys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2935A>T
  hgvsp: ENSP00000441675.1:p.Ser979Cys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2938A>T
  hgvsp: ENSP00000473617.1:p.Ser980Cys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2935A>T
  hgvsp: ENSP00000441462.1:p.Ser979Cys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2938A>T
  hgvsp: ENSP00000473359.1:p.Ser980Cys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2935A>T
  hgvsp: ENSP00000446243.1:p.Ser979Cys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2938A>T
  hgvsp: ENSP00000383047.3:p.Ser980Cys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2938A>T
  hgvsp: ENSP00000430733.1:p.Ser980Cys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.468A>T
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23067
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser979Cys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

8-3224740-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224740
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224740
    reference: chr 8
allele count: 1
allele frequency: 9.151307721873456e-6
allele num: 109274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1370C>G
  hgvsp: ENSP00000334828.6:p.Leu458Val
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2929C>G
  hgvsp: ENSP00000441462.1:p.Leu977Val
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2932C>G
  hgvsp: ENSP00000383047.3:p.Leu978Val
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2932C>G
  hgvsp: ENSP00000430733.1:p.Leu978Val
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2929C>G
  hgvsp: ENSP00000446243.1:p.Leu977Val
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2932C>G
  hgvsp: ENSP00000473359.1:p.Leu978Val
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2929C>G
  hgvsp: ENSP00000441675.1:p.Leu977Val
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2932C>G
  hgvsp: ENSP00000473617.1:p.Leu978Val
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.462C>G
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13597
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32320
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu977Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

8-3224744-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224744
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224744
    reference: chr 8
allele count: 1
allele frequency: 9.237704615157226e-6
allele num: 108252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2928T>C
  hgvsp: ENST00000602557.1:c.2928T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2928T>C
  hgvsp: ENST00000602723.1:c.2928T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.458T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2928T>C
  hgvsp: ENST00000520002.1:c.2928T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2925T>C
  hgvsp: ENST00000537824.1:c.2925T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1366T>C
  hgvsp: ENST00000335551.7:c.1366T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2925T>C
  hgvsp: ENST00000542608.1:c.2925T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2925T>C
  hgvsp: ENST00000539096.1:c.2925T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2928T>C
  hgvsp: ENST00000400186.3:c.2928T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11069
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3675
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe975Phe
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum

8-3224747-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224747
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224747
    reference: chr 8
allele count: 4
allele frequency: 3.701784260013326e-5
allele num: 108056
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2922C>T
  hgvsp: ENST00000537824.1:c.2922C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2925C>T
  hgvsp: ENST00000400186.3:c.2925C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2925C>T
  hgvsp: ENST00000602557.1:c.2925C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1363C>T
  hgvsp: ENST00000335551.7:c.1363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.455C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2922C>T
  hgvsp: ENST00000539096.1:c.2922C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2925C>T
  hgvsp: ENST00000520002.1:c.2925C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2925C>T
  hgvsp: ENST00000602723.1:c.2925C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2922C>T
  hgvsp: ENST00000542608.1:c.2922C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11083
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20092
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12817
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5990
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr974Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ

8-3224747-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224747
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224747
    reference: chr 8
allele count: 2
allele frequency: 1.850892130006663e-5
allele num: 108056
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2925C>G
  hgvsp: ENST00000602557.1:c.2925C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2922C>G
  hgvsp: ENST00000542608.1:c.2922C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2925C>G
  hgvsp: ENST00000400186.3:c.2925C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2922C>G
  hgvsp: ENST00000537824.1:c.2922C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2925C>G
  hgvsp: ENST00000602723.1:c.2925C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.455C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2925C>G
  hgvsp: ENST00000520002.1:c.2925C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1363C>G
  hgvsp: ENST00000335551.7:c.1363C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2922C>G
  hgvsp: ENST00000539096.1:c.2922C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5990
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11083
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20092
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr974Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

8-3224749-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224749
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224749
    reference: chr 8
allele count: 1
allele frequency: 9.296272194849865e-6
allele num: 107570
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1361A>G
  hgvsp: ENSP00000334828.6:p.Thr455Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2923A>G
  hgvsp: ENSP00000473359.1:p.Thr975Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2923A>G
  hgvsp: ENSP00000430733.1:p.Thr975Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2920A>G
  hgvsp: ENSP00000441462.1:p.Thr974Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2920A>G
  hgvsp: ENSP00000441675.1:p.Thr974Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2923A>G
  hgvsp: ENSP00000473617.1:p.Thr975Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2923A>G
  hgvsp: ENSP00000383047.3:p.Thr975Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2920A>G
  hgvsp: ENSP00000446243.1:p.Thr974Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.453A>G
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11815
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19374
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr974Ala
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

8-3224764-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224764
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224764
    reference: chr 8
allele count: 3
allele frequency: 2.953453571709853e-5
allele num: 101576
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2908C>A
  hgvsp: ENSP00000430733.1:p.Gln970Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2908C>A
  hgvsp: ENSP00000383047.3:p.Gln970Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2905C>A
  hgvsp: ENSP00000446243.1:p.Gln969Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2905C>A
  hgvsp: ENSP00000441675.1:p.Gln969Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2908C>A
  hgvsp: ENSP00000473617.1:p.Gln970Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1346C>A
  hgvsp: ENSP00000334828.6:p.Gln450Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2908C>A
  hgvsp: ENSP00000473359.1:p.Gln970Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.438C>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2905C>A
  hgvsp: ENSP00000441462.1:p.Gln969Lys
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19314
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23832
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Gln969Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

8-3224767-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224767
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224767
    reference: chr 8
allele count: 4
allele frequency: 3.941896446380353e-5
allele num: 101474
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2902G>A
  hgvsp: ENSP00000446243.1:p.Val968Ile
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1343G>A
  hgvsp: ENSP00000334828.6:p.Val449Ile
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2905G>A
  hgvsp: ENSP00000473617.1:p.Val969Ile
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2905G>A
  hgvsp: ENSP00000383047.3:p.Val969Ile
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.435G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2905G>A
  hgvsp: ENSP00000473359.1:p.Val969Ile
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2905G>A
  hgvsp: ENSP00000430733.1:p.Val969Ile
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2902G>A
  hgvsp: ENSP00000441675.1:p.Val968Ile
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2902G>A
  hgvsp: ENSP00000441462.1:p.Val968Ile
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10370
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6466
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val968Ile
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: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

8-3224774-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224774
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224774
    reference: chr 8
allele count: 1
allele frequency: 1.019721412110211e-5
allele num: 98066
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2903-5C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2900-5C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2900-5C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2903-5C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2900-5C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2903-5C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1341-5C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.433-5C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2903-5C>G
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8679
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9610
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4305
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 3.75e1
  variant carriers: 0
hgvs: c.2900-5C>G
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

8-3224779-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224779
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224779
    reference: chr 8
allele count: 2612
allele frequency: 2.835801450471186e-2
allele num: 92108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2903-10C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2903-10C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2903-10C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2903-10C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2900-10C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1341-10C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.433-10C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2900-10C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2900-10C>T
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 3.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 21670
  bin: 1.25e1
  variant carriers: 787
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 10917
  bin: 7.5e0
  variant carriers: 185
genotype depth: GenotypeDepth
  all individuals: 9720
  bin: 1.75e1
  variant carriers: 771
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 2.25e1
  variant carriers: 464
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 2.75e1
  variant carriers: 198
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.25e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 4.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 6.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 3.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 8.25e1
  variant carriers: 44
num of homozygotes: 56
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD

8-3224782-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224782
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224782
    reference: chr 8
allele count: 22
allele frequency: 2.471799020268752e-4
allele num: 89004
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2903-13C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.433-13C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1341-13C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2900-13C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2900-13C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2903-13C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2903-13C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2900-13C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2903-13C>G
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11868
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9120
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21981
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27362
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/8-3224783-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224783
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224783
    reference: chr 8
allele count: 3
allele frequency: 3.465643916639712e-5
allele num: 86564
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2900-14G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2903-14G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2900-14G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.433-14G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2903-14G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2903-14G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2900-14G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1341-14G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2903-14G>T
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21984
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4883
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

8-3224783-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3224783
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3224783
    reference: chr 8
allele count: 1
allele frequency: 1.155214638879904e-5
allele num: 86564
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.2900-14G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.2903-14G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.2900-14G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.2903-14G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.2903-14G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.1341-14G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.2903-14G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.433-14G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.2900-14G>C
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21984
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4883
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4650
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 363
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60086
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.023122570083896e-4
allele num: 9774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5830
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7664
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.236e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.861e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.28e-1

DP
type: SiteQuality
SIO_000300: 1.338842e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

QD
type: SiteQuality
SIO_000300: 3.41e0

MQRankSum
type: SiteQuality
SIO_000300: -9.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.95e-1

GenotypeQuality
all individuals: 1742
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.657055743355207e-5
allele num: 60348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7714
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.003e0

DP
type: SiteQuality
SIO_000300: 1.344174e6

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: 4.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

QD
type: SiteQuality
SIO_000300: 1.073e1

GenotypeQuality
all individuals: 1607
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.657055743355207e-5
allele num: 60348
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.84e-1

FS
type: SiteQuality
SIO_000300: 1.003e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.073e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.44e0

DP
type: SiteQuality
SIO_000300: 1.344174e6

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6070
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.629513753096076e-5
allele num: 61368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7930
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14744
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9076
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.52e0

DP
type: SiteQuality
SIO_000300: 1.677261e6

FS
type: SiteQuality
SIO_000300: 6.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 1.721e1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7930
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9076
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6070
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.629513753096076e-5
allele num: 61368
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 1.017362995116658e-3
allele num: 14744
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.721e1

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 6.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

DP
type: SiteQuality
SIO_000300: 1.677261e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-2

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8078
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.627074520013016e-4
allele num: 6146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.607303587501607e-5
allele num: 62216
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14826
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.420513e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.357e1

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

FS
type: SiteQuality
SIO_000300: 6.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.35e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1564
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.386715631486508e-5
allele num: 62630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10812
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14920
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: -1.922e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.77e-1

QD
type: SiteQuality
SIO_000300: 1.324e1

FS
type: SiteQuality
SIO_000300: 1.497e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 1.427241e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14980
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.952665733553888e-5
allele num: 62872
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

QD
type: SiteQuality
SIO_000300: 1.151e1

FS
type: SiteQuality
SIO_000300: 4.156e0

DP
type: SiteQuality
SIO_000300: 1.433223e6

VQSLOD
type: SiteQuality
SIO_000300: -3.031e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10854
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9192
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15002
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.589319771137953e-5
allele num: 62920
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6230
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.008e0

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

FS
type: SiteQuality
SIO_000300: 8.140000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10902
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15072
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.580228184949907e-5
allele num: 63282
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.034999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
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QD
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -8.5e-1

FS
type: SiteQuality
SIO_000300: 3.239e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15228
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.703816363009188e-5
allele num: 63778
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.039e1

VQSLOD
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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DP
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InbreedingCoeff
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SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 5.929e1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.564308731971342e-5
allele num: 63926
num of homozygotes: 0

African
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East Asian
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allele frequency: 0.0e0
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Latino
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South Asian
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MQ
type: SiteQuality
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VQSLOD
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FS
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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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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European (Non-Finnish)
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allele frequency: 1.561182752052955e-5
allele num: 64054
num of homozygotes: 0

Latino
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allele frequency: 1.178390137781001e-3
allele num: 11032
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Other
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allele frequency: 1.176470588235294e-3
allele num: 850
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African
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allele frequency: 1.897919794123954e-2
allele num: 9326
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ReadPosRankSum
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VQSLOD
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DP
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MQ
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ClippingRankSum
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FS
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele frequency: 1.559624442434262e-5
allele num: 64118
num of homozygotes: 0

Latino
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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QD
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MQRankSum
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InbreedingCoeff
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FS
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DP
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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allele num: 8328
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64342
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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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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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VQSLOD
type: SiteQuality
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ClippingRankSum
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DP
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FS
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BaseQRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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African
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European (Non-Finnish)
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allele num: 64388
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South Asian
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ClippingRankSum
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BaseQRankSum
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FS
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MQRankSum
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DP
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InbreedingCoeff
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MQ
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VQSLOD
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 15454
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Latino
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European (Non-Finnish)
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East Asian
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African
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Other
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European (Finnish)
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VQSLOD
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QD
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InbreedingCoeff
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
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ClippingRankSum
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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Other
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MQRankSum
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ReadPosRankSum
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DP
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MQ
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BaseQRankSum
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ClippingRankSum
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QD
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FS
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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South Asian
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VQSLOD
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MQRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5682
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539266693347289e-5
allele num: 64966
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.068e1

MQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.82e0

MQ
type: SiteQuality
SIO_000300: 5.695e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e0

VQSLOD
type: SiteQuality
SIO_000300: -1.765e0

DP
type: SiteQuality
SIO_000300: 1.492026e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.297e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

GenotypeQuality
all individuals: 705
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 13

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.692099433915826e-4
allele num: 65008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15636
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.128112364332837e-4
allele num: 9398
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.491997e6

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

FS
type: SiteQuality
SIO_000300: 2.424e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

QD
type: SiteQuality
SIO_000300: 1.462e1

GenotypeQuality
all individuals: 243
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1006
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variant carriers: 1

GenotypeQuality
all individuals: 1502
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11172
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.1441647597254e-3
allele num: 874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9432
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.516e0

MQ
type: SiteQuality
SIO_000300: 5.829e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

MQRankSum
type: SiteQuality
SIO_000300: 7.85e-1

DP
type: SiteQuality
SIO_000300: 1.49327e6

QD
type: SiteQuality
SIO_000300: 1.766e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.07e-1

FS
type: SiteQuality
SIO_000300: 7.282e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 1051
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variant carriers: 0

GenotypeQuality
all individuals: 226
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1300
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variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15718
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.950948800572861e-5
allele num: 11172
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.129e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.154e0

VQSLOD
type: SiteQuality
SIO_000300: -1.246e0

MQRankSum
type: SiteQuality
SIO_000300: -6.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.209e0

QD
type: SiteQuality
SIO_000300: 1.416e1

DP
type: SiteQuality
SIO_000300: 1.491622e6

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

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1024
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 241
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.191043353978085e-4
allele num: 8396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65154
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11166
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.225e0

VQSLOD
type: SiteQuality
SIO_000300: -1.172e0

DP
type: SiteQuality
SIO_000300: 1.490426e6

QD
type: SiteQuality
SIO_000300: 9.75e0

FS
type: SiteQuality
SIO_000300: 1.356e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.14e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

GenotypeQuality
all individuals: 5601
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
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GenotypeQuality
all individuals: 1072
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15708
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534825183411609e-5
allele num: 65154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.490978e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 1.092e1

MQ
type: SiteQuality
SIO_000300: 5.94e1

FS
type: SiteQuality
SIO_000300: 6.253e0

MQRankSum
type: SiteQuality
SIO_000300: -1.465e0

VQSLOD
type: SiteQuality
SIO_000300: -9.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.442e0

GenotypeQuality
all individuals: 841
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5575
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.676010930639566e-5
allele num: 65138
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.373486297004461e-5
allele num: 15690
num of homozygotes: 0

East Asian
type: Population
allele count: 239
allele frequency: 2.852709477202196e-2
allele num: 8378
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9422
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.96700143472023e-5
allele num: 11152
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.032e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.164e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1

DP
type: SiteQuality
SIO_000300: 1.492457e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15700
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535060788407221e-5
allele num: 65144
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.19e-1

FS
type: SiteQuality
SIO_000300: 1.148e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.488666e6

VQSLOD
type: SiteQuality
SIO_000300: -1.62e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

QD
type: SiteQuality
SIO_000300: 1.055e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.72e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 233
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
all individuals: 1208
bin: 5.25e1
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GenotypeQuality
all individuals: 573
bin: 5.75e1
variant carriers: 0

Other
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allele count: 2
allele frequency: 2.304147465437788e-3
allele num: 868
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9414
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.795977011494253e-4
allele num: 11136
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65050
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 1.914241960183767e-4
allele num: 15672
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 9.0e-4

MQRankSum
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ClippingRankSum
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 2.437e0

BaseQRankSum
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SIO_000300: 9.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

QD
type: SiteQuality
SIO_000300: 1.232e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.485587e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65024
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9406
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.384880602732728e-5
allele num: 15662
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

DP
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BaseQRankSum
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SIO_000300: 2.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 3.0e-3

ReadPosRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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ClippingRankSum
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SIO_000300: -9.340000000000001e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65024
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15662
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.06315118009781e-4
allele num: 9406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

DP
type: SiteQuality
SIO_000300: 1.484966e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.095e1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 2
allele frequency: 1.276976120546546e-4
allele num: 15662
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537893700787402e-5
allele num: 65024
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.981498113885396e-5
allele num: 11134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.484966e6

MQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 1.095e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9426
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.973438621679828e-5
allele num: 11144
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.536948235583426e-5
allele num: 65064
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15680
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.233e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

VQSLOD
type: SiteQuality
SIO_000300: 3.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

DP
type: SiteQuality
SIO_000300: 1.483832e6

QD
type: SiteQuality
SIO_000300: 1.266e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15662
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65044
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.795009872554299e-4
allele num: 11142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.56e-1

InbreedingCoeff
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MQ
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.387e0

DP
type: SiteQuality
SIO_000300: 1.481869e6

QD
type: SiteQuality
SIO_000300: 1.309e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11142
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.06224771616741e-4
allele num: 9414
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

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

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
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num of homozygotes: 0

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

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

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

South Asian
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allele frequency: 6.38895987733197e-5
allele num: 15652
num of homozygotes: 0

African
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 862
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.538935056940597e-5
allele num: 64980
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East Asian
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allele frequency: 3.582517315500358e-4
allele num: 8374
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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FS
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DP
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BaseQRankSum
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QD
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VQSLOD
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9394
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.002520705797624e-5
allele num: 11108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

DP
type: SiteQuality
SIO_000300: 1.476262e6

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

QD
type: SiteQuality
SIO_000300: 1.244e1

FS
type: SiteQuality
SIO_000300: 2.733e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.126e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8354
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.541354542371836e-5
allele num: 64878
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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.753e0

InbreedingCoeff
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SIO_000300: 6.7e-3

DP
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SIO_000300: 1.477052e6

MQRankSum
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SIO_000300: -2.81e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.45e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.92e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541354542371836e-5
allele num: 64878
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9390
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.391409945033875e-5
allele num: 15646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

QD
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ClippingRankSum
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SIO_000300: -1.106e0

MQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.45e-1

DP
type: SiteQuality
SIO_000300: 1.477052e6

FS
type: SiteQuality
SIO_000300: 1.753e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11094
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15640
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.06473594548552e-4
allele num: 9392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.218e1

FS
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.08e-1

DP
type: SiteQuality
SIO_000300: 1.47705e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

MQ
type: SiteQuality
SIO_000300: 5.918e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.12e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543019380323417e-5
allele num: 64808
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: 860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.19703136222169e-4
allele num: 8354
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.503e0

DP
type: SiteQuality
SIO_000300: 1.477655e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.249e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

VQSLOD
type: SiteQuality
SIO_000300: 5.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.007e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.542543345468008e-5
allele num: 64828
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8350
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.296e0

MQRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
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QD
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.475992e6

MQ
type: SiteQuality
SIO_000300: 5.869e1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11056
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.545069682642687e-5
allele num: 64722
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

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

Latino
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allele frequency: 1.812907904278463e-4
allele num: 11032
num of homozygotes: 0

East Asian
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European (Non-Finnish)
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European (Finnish)
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African
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Other
type: Population
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DP
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15496
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

East Asian
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num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
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Latino
type: Population
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allele frequency: 0.0e0
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Other
type: Population
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allele num: 854
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548227279764669e-5
allele num: 64590
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.183e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.483e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.18e0

MQRankSum
type: SiteQuality
SIO_000300: -3.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.466227e6

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 203
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11002
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549618793776731e-5
allele num: 64532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 6.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e-1

FS
type: SiteQuality
SIO_000300: 1.012e0

DP
type: SiteQuality
SIO_000300: 1.465236e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.850000000000001e-1

GenotypeQuality
all individuals: 203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1127
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1781
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11002
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.071581654522075e-4
allele num: 9332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

QD
type: SiteQuality
SIO_000300: 6.14e0

FS
type: SiteQuality
SIO_000300: 1.012e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

VQSLOD
type: SiteQuality
SIO_000300: 6.850000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.465236e6

GenotypeQuality
all individuals: 405
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 972
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variant carriers: 1

GenotypeQuality
all individuals: 1026
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552120196187993e-5
allele num: 64428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10996
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15470
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 5.372e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 1.464453e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

QD
type: SiteQuality
SIO_000300: 1.464e1

GenotypeQuality
all individuals: 1144
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 507
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.074575542660649e-4
allele num: 9306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552120196187993e-5
allele num: 64428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10996
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 5.372e0

QD
type: SiteQuality
SIO_000300: 1.464e1

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 1.464453e6

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 223
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GenotypeQuality
all individuals: 1171
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.553277415346381e-5
allele num: 64380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10988
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6408
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.464822e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

FS
type: SiteQuality
SIO_000300: 5.882e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.216e1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 225
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11004
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.215619852689809e-5
allele num: 64354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15450
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.725e1

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.102e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 6.97e0

VQSLOD
type: SiteQuality
SIO_000300: -1.343e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

QD
type: SiteQuality
SIO_000300: 8.44e0

DP
type: SiteQuality
SIO_000300: 1.463696e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 520
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64274
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.944264419961115e-4
allele num: 15430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10988
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 1.461321e6

FS
type: SiteQuality
SIO_000300: 3.968e0

VQSLOD
type: SiteQuality
SIO_000300: -1.838e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 2.254e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.197e0

GenotypeQuality
all individuals: 1006
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1045
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 222
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.485925541574782e-5
allele num: 15418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10970
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9256
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

FS
type: SiteQuality
SIO_000300: 1.015e1

DP
type: SiteQuality
SIO_000300: 1.462312e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.657e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

InbreedingCoeff
type: SiteQuality
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VQSLOD
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 63712
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Other
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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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Latino
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South Asian
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FS
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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QD
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MQ
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VQSLOD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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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 (Non-Finnish)
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allele num: 63428
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African
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Other
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ClippingRankSum
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InbreedingCoeff
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QD
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VQSLOD
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FS
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MQ
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BaseQRankSum
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DP
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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East Asian
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African
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South Asian
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Latino
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InbreedingCoeff
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ClippingRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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FS
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 63088
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East Asian
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allele frequency: 0.0e0
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African
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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DP
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QD
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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African
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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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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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Latino
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Other
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FS
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MQ
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 7884
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South Asian
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African
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Latino
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European (Non-Finnish)
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Other
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European (Finnish)
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MQ
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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FS
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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Latino
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European (Finnish)
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East Asian
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European (Non-Finnish)
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South Asian
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MQRankSum
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VQSLOD
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QD
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BaseQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.277465508431272e-4
allele num: 7828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.990185967597059e-5
allele num: 60118
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.090000000000001e-1

QD
type: SiteQuality
SIO_000300: 8.460000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.16e-2

DP
type: SiteQuality
SIO_000300: 1.31486e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

GenotypeQuality
all individuals: 121
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.326790645064706e-5
allele num: 60118
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7828
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.911e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.16e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.090000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

DP
type: SiteQuality
SIO_000300: 1.31486e6

QD
type: SiteQuality
SIO_000300: 8.460000000000001e0

GenotypeQuality
all individuals: 952
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 215
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.00060036021613e-4
allele num: 9994
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6000
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14564
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.79e-1

FS
type: SiteQuality
SIO_000300: 6.16e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.301173e6

VQSLOD
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.045e0

QD
type: SiteQuality
SIO_000300: 1.498e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56458
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8066
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.234850118611171e-4
allele num: 9274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7332
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.37e-1

DP
type: SiteQuality
SIO_000300: 1.133141e6

VQSLOD
type: SiteQuality
SIO_000300: 6.879999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.069e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

FS
type: SiteQuality
SIO_000300: 4.821e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

QD
type: SiteQuality
SIO_000300: 1.055e1

GenotypeQuality
all individuals: 205
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
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GenotypeQuality
all individuals: 2708
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8048
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13976
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.089684509039348e-5
allele num: 56420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5702
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.52e-1

QD
type: SiteQuality
SIO_000300: 9.130000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.58e-1

DP
type: SiteQuality
SIO_000300: 1.130201e6

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.293e0

GenotypeQuality
all individuals: 446
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
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variant carriers: 0

GenotypeQuality
all individuals: 27089
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 4191
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 180
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GenotypeQuality
all individuals: 395
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7048
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.832508704416346e-5
allele num: 54570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

FS
type: SiteQuality
SIO_000300: 7.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 1.060211e6

QD
type: SiteQuality
SIO_000300: 1.18e1

GenotypeQuality
all individuals: 203
bin: 8.75e1
variant carriers: 37

GenotypeQuality
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bin: 1.25e1
variant carriers: 6

GenotypeQuality
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bin: 1.75e1
variant carriers: 5

GenotypeQuality
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variant carriers: 15

GenotypeQuality
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GenotypeQuality
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variant carriers: 12

GenotypeQuality
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bin: 5.25e1
variant carriers: 23

GenotypeQuality
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variant carriers: 16

GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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variant carriers: 47

GenotypeQuality
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GenotypeQuality
all individuals: 673
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variant carriers: 32

GenotypeQuality
all individuals: 3141
bin: 9.75e1
variant carriers: 2406

African
type: Population
allele count: 37
allele frequency: 5.086609843277427e-3
allele num: 7274
num of homozygotes: 0

South Asian
type: Population
allele count: 180
allele frequency: 1.374465485644472e-2
allele num: 13096
num of homozygotes: 4

Latino
type: Population
allele count: 673
allele frequency: 8.416708354177088e-2
allele num: 7996
num of homozygotes: 20

East Asian
type: Population
allele count: 573
allele frequency: 9.006601697579378e-2
allele num: 6362
num of homozygotes: 23

Other
type: Population
allele count: 25
allele frequency: 3.551136363636364e-2
allele num: 704
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 96
allele frequency: 1.820250284414107e-2
allele num: 5274
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 1028
allele frequency: 1.999922182016264e-2
allele num: 51402
num of homozygotes: 6

DP
type: SiteQuality
SIO_000300: 1.003654e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.766e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-2

FS
type: SiteQuality
SIO_000300: 8.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.307e1

GenotypeQuality
all individuals: 1298
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 798
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2048
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variant carriers: 0

GenotypeQuality
all individuals: 7476
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50004
num of homozygotes: 0

South Asian
type: Population
allele count: 22
allele frequency: 1.719287277274148e-3
allele num: 12796
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

DP
type: SiteQuality
SIO_000300: 9.76688e5

QD
type: SiteQuality
SIO_000300: 1.428e1

GenotypeQuality
all individuals: 780
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 382
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GenotypeQuality
all individuals: 1995
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GenotypeQuality
all individuals: 26669
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GenotypeQuality
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GenotypeQuality
all individuals: 583
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 598
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GenotypeQuality
all individuals: 655
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GenotypeQuality
all individuals: 6877
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5030
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12594
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.488095238095238e-3
allele num: 672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48674
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.857959416976279e-4
allele num: 6998
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.629e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

DP
type: SiteQuality
SIO_000300: 9.69627e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

QD
type: SiteQuality
SIO_000300: 1.258e1

GenotypeQuality
all individuals: 598
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26669
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1556
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6877
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4385
bin: 3.25e1
variant carriers: 0