1-52824123-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824123
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824123
    reference: chr 1
allele count: 1
allele frequency: 8.302475798283047e-6
allele num: 120446
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1341C>G
  hgvsp: ENST00000371586.2:c.1341C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1902C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-535C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.944C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.800C>G
  hgvsp: ENST00000450942.2:c.800C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.701C>G
  hgvsp: ENST00000438021.1:c.701C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1341C>G
  hgvsp: ENST00000284376.3:c.1341C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24184
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro447Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

1-52824124-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824124
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824124
    reference: chr 1
allele count: 1
allele frequency: 8.301648707433296e-6
allele num: 120458
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.700C>T
  hgvsp: ENSP00000395921.1:p.Pro234Leu
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1340C>T
  hgvsp: ENSP00000284376.3:p.Pro447Leu
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.943C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.799C>T
  hgvsp: ENSP00000402440.2:p.Pro267Leu
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1340C>T
  hgvsp: ENSP00000360642.2:p.Pro447Leu
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-536C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1901C>T
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12476
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24182
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4001
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro447Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

1-52824131-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824131
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824131
    reference: chr 1
allele count: 4
allele frequency: 3.324136555529701e-5
allele num: 120332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-543T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1333T>C
  hgvsp: ENSP00000284376.3:p.Phe445Leu
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1894T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.693T>C
  hgvsp: ENSP00000395921.1:p.Phe232Leu
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1333T>C
  hgvsp: ENSP00000360642.2:p.Phe445Leu
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.792T>C
  hgvsp: ENSP00000402440.2:p.Phe265Leu
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.936T>C
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4936
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7596
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3992
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe445Leu
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

1-52824136-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824136
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824136
    reference: chr 1
allele count: 1
allele frequency: 8.315178526882972e-6
allele num: 120262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-545-3C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.790-3C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1331-3C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1892-3C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.691-3C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1331-3C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.934-3C>G
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8089
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4097
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1331-3C>G
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

1-52824139-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824139
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824139
    reference: chr 1
allele count: 24
allele frequency: 1.996240413887179e-4
allele num: 120226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.790-6C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.934-6C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-545-6C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1331-6C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1331-6C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1892-6C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.691-6C>T
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7387
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7865
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7817
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 11647
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4969
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1331-6C>T
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

1-52824141-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824141
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824141
    reference: chr 1
allele count: 1
allele frequency: 8.321821480285606e-6
allele num: 120166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.691-8T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1892-8T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.934-8T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-545-8T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.790-8T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1331-8T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1331-8T>C
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7816
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4092
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24171
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2451
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4961
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1331-8T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

1-52824148-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824148
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824148
    reference: chr 1
allele count: 2
allele frequency: 1.669337606837607e-5
allele num: 119808
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.790-15G>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.691-15G>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1892-15G>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1331-15G>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.934-15G>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-545-15G>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1331-15G>C
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7806
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3628
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2414
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3944
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4082
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-52824153-T-TGGGAGGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824153
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824160
    reference: chr 1
allele count: 217
allele frequency: 1.810717444635437e-3
allele num: 119842
alternate allele: TGGGAGGG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.790-27_790-21dupCCCTCCC
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1331-27_1331-21dupCCCTCCC
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.934-27_934-21dupCCCTCCC
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1331-27_1331-21dupCCCTCCC
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-545-27_-545-21dupCCCTCCC
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.691-27_691-21dupCCCTCCC
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1892-27_1892-21dupCCCTCCC
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7752
  bin: 3.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 7814
  bin: 4.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 8072
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6492
  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 2.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 5.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3847
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24346
  bin: 9.75e1
  variant carriers: 218
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4802
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 3
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

1-52824158-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824158
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824158
    reference: chr 1
allele count: 1
allele frequency: 8.346827370916315e-6
allele num: 119806
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1331-25C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1331-25C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.790-25C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.691-25C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1892-25C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-545-25C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.934-25C>G
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4567
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3854
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

1-52824159-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824159
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824159
    reference: chr 1
allele count: 2
allele frequency: 1.66925401038276e-5
allele num: 119814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.691-26C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1331-26C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.934-26C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.790-26C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1331-26C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-545-26C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1892-26C>T
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24201
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4079
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

1-52824180-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824180
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824180
    reference: chr 1
allele count: 2
allele frequency: 1.672100994900092e-5
allele num: 119610
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.934-47T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1331-47T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1331-47T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.790-47T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.691-47T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-545-47T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1892-47T>C
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7761
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7985
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8151
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4072
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-52824183-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824183
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824183
    reference: chr 1
allele count: 37
allele frequency: 3.096700758273213e-4
allele num: 119482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.934-50G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.691-50G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.790-50G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1331-50G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1331-50G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-545-50G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1892-50G>A
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7960
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7054
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6466
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7752
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24166
  bin: 9.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/1-52824185-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824185
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824184
    reference: chr 1
allele count: 1
allele frequency: 8.381386616601851e-6
allele num: 119312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.790-53delT
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-545-53delT
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1331-53delT
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1331-53delT
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1892-53delT
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.934-53delT
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.691-53delT
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4917
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3925
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: CA
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

1-52824311-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824311
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824311
    reference: chr 1
allele count: 1
allele frequency: 8.266239026567692e-6
allele num: 120974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.789+47G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1330+47G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.933+47G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1330+47G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1891+47G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-546+47G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.690+47G>A
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13934
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

1-52824316-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824316
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824316
    reference: chr 1
allele count: 1
allele frequency: 8.264599414866361e-6
allele num: 120998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-546+42C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1330+42C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.789+42C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.690+42C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1330+42C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.933+42C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1891+42C>T
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37257
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10397
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

1-52824332-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824332
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824332
    reference: chr 1
allele count: 1
allele frequency: 8.267879288962381e-6
allele num: 120950
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1891+26C>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-546+26C>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1330+26C>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.789+26C>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.690+26C>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1330+26C>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.933+26C>A
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

1-52824333-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824333
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824332
    reference: chr 1
allele count: 1
allele frequency: 8.267605866693123e-6
allele num: 120954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1330+24delC
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-546+24delC
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.690+24delC
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.933+24delC
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1330+24delC
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.789+24delC
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1891+24delC
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9939
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: AG
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

1-52824346-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824346
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824346
    reference: chr 1
allele count: 19
allele frequency: 1.571494739628135e-4
allele num: 120904
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1330+12A>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1891+12A>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.690+12A>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.789+12A>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1330+12A>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.933+12A>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-546+12A>G
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29465
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13874
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2688
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2721
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10395
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

1-52824347-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824347
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824347
    reference: chr 1
allele count: 6
allele frequency: 4.963189676565473e-5
allele num: 120890
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.933+11C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1891+11C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.690+11C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.789+11C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1330+11C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-546+11C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1330+11C>T
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29478
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38701
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2686
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-52824347-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824347
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824348
    reference: chr 1
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1891+10dupG
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.789+10dupG
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-546+10dupG
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.933+10dupG
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1330+10dupG
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.690+10dupG
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1330+10dupG
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2686
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38701
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

1-52824349-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824349
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824349
    reference: chr 1
allele count: 1
allele frequency: 8.272940865018697e-6
allele num: 120876
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1891+9G>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-546+9G>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1330+9G>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.789+9G>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.933+9G>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1330+9G>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.690+9G>C
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

1-52824359-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824359
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824359
    reference: chr 1
allele count: 2
allele frequency: 1.655601728448204e-5
allele num: 120802
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.788A>G
  hgvsp: ENST00000450942.2:c.788A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.932A>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-547A>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1329A>G
  hgvsp: ENST00000284376.3:c.1329A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1329A>G
  hgvsp: ENST00000371586.2:c.1329A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.689A>G
  hgvsp: ENST00000438021.1:c.689A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1890A>G
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38809
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2898
  bin: 9.75e1
  variant carriers: 2
hgvs: c.1329A>G
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

1-52824368-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824368
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824368
    reference: chr 1
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.923T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.680T>C
  hgvsp: ENST00000438021.1:c.680T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-556T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.779T>C
  hgvsp: ENST00000450942.2:c.779T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1320T>C
  hgvsp: ENST00000371586.2:c.1320T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1320T>C
  hgvsp: ENST00000284376.3:c.1320T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1881T>C
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro440Pro
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/1-52824372-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824372
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824372
    reference: chr 1
allele count: 2
allele frequency: 1.657138122462507e-5
allele num: 120690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1877T>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-560T>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.676T>G
  hgvsp: ENSP00000395921.1:p.Leu226Trp
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1316T>G
  hgvsp: ENSP00000360642.2:p.Leu439Trp
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1316T>G
  hgvsp: ENSP00000284376.3:p.Leu439Trp
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.919T>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.775T>G
  hgvsp: ENSP00000402440.2:p.Leu259Trp
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10363
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2896
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38817
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu439Trp
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-52824380-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824380
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824380
    reference: chr 1
allele count: 2
allele frequency: 1.657934876318058e-5
allele num: 120632
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.767T>C
  hgvsp: ENST00000450942.2:c.767T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.668T>C
  hgvsp: ENST00000438021.1:c.668T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-568T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1308T>C
  hgvsp: ENST00000284376.3:c.1308T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.911T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1308T>C
  hgvsp: ENST00000371586.2:c.1308T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1869T>C
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10359
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe436Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-52824381-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824381
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824381
    reference: chr 1
allele count: 1
allele frequency: 8.290086714307032e-6
allele num: 120626
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-569T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1868T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.766T>C
  hgvsp: ENSP00000402440.2:p.Phe256Ser
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1307T>C
  hgvsp: ENSP00000284376.3:p.Phe436Ser
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.910T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.667T>C
  hgvsp: ENSP00000395921.1:p.Phe223Ser
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1307T>C
  hgvsp: ENSP00000360642.2:p.Phe436Ser
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2892
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe436Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-52824384-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824384
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824384
    reference: chr 1
allele count: 1
allele frequency: 8.292148993333113e-6
allele num: 120596
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-572A>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1304A>G
  hgvsp: ENSP00000284376.3:p.Asn435Ser
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.763A>G
  hgvsp: ENSP00000402440.2:p.Asn255Ser
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.664A>G
  hgvsp: ENSP00000395921.1:p.Asn222Ser
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.907A>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1304A>G
  hgvsp: ENSP00000360642.2:p.Asn435Ser
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1865A>G
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13861
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2688
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2892
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38736
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn435Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

1-52824385-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824385
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824385
    reference: chr 1
allele count: 8
allele frequency: 6.63415928616446e-5
allele num: 120588
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.906A>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-573A>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.762A>G
  hgvsp: ENSP00000402440.2:p.Asn255Asp
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1864A>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1303A>G
  hgvsp: ENSP00000360642.2:p.Asn435Asp
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.663A>G
  hgvsp: ENSP00000395921.1:p.Asn222Asp
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1303A>G
  hgvsp: ENSP00000284376.3:p.Asn435Asp
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2667
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38711
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10350
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn435Asp
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-52824391-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824391
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824391
    reference: chr 1
allele count: 1
allele frequency: 8.299581701082266e-6
allele num: 120488
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1297A>G
  hgvsp: ENSP00000360642.2:p.Lys433Glu
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.756A>G
  hgvsp: ENSP00000402440.2:p.Lys253Glu
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-579A>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.657A>G
  hgvsp: ENSP00000395921.1:p.Lys220Glu
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.900A>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1858A>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1297A>G
  hgvsp: ENSP00000284376.3:p.Lys433Glu
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13857
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38650
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2886
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2666
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys433Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

1-52824392-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824392
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824392
    reference: chr 1
allele count: 45
allele frequency: 3.735059760956175e-4
allele num: 120480
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1296G>A
  hgvsp: ENST00000371586.2:c.1296G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.755G>A
  hgvsp: ENST00000450942.2:c.755G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.656G>A
  hgvsp: ENST00000438021.1:c.656G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1296G>A
  hgvsp: ENST00000284376.3:c.1296G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-580G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.899G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1857G>A
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13848
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29582
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10339
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2655
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg432Arg
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-52824393-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824393
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824393
    reference: chr 1
allele count: 2
allele frequency: 1.66021948101539e-5
allele num: 120466
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.754G>A
  hgvsp: ENSP00000402440.2:p.Arg252Gln
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1295G>A
  hgvsp: ENSP00000284376.3:p.Arg432Gln
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.655G>A
  hgvsp: ENSP00000395921.1:p.Arg219Gln
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.898G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-581G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1856G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1295G>A
  hgvsp: ENSP00000360642.2:p.Arg432Gln
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13857
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg432Gln
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

1-52824394-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824394
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824394
    reference: chr 1
allele count: 2
allele frequency: 1.660495159656609e-5
allele num: 120446
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-582C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1294C>T
  hgvsp: ENSP00000284376.3:p.Arg432Trp
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.753C>T
  hgvsp: ENSP00000402440.2:p.Arg252Trp
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1855C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.897C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1294C>T
  hgvsp: ENSP00000360642.2:p.Arg432Trp
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.654C>T
  hgvsp: ENSP00000395921.1:p.Arg219Trp
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13852
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2648
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg432Trp
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP

1-52824396-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824396
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824396
    reference: chr 1
allele count: 1
allele frequency: 8.302337938363443e-6
allele num: 120448
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1292G>A
  hgvsp: ENSP00000284376.3:p.Gly431Glu
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-584G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.751G>A
  hgvsp: ENSP00000402440.2:p.Gly251Glu
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1853G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1292G>A
  hgvsp: ENSP00000360642.2:p.Gly431Glu
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.895G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.652G>A
  hgvsp: ENSP00000395921.1:p.Gly218Glu
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly431Glu
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

1-52824399-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824399
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824399
    reference: chr 1
allele count: 1
allele frequency: 8.308408109006315e-6
allele num: 120360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.748C>T
  hgvsp: ENSP00000402440.2:p.Ala250Val
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1850C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-587C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.649C>T
  hgvsp: ENSP00000395921.1:p.Ala217Val
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1289C>T
  hgvsp: ENSP00000360642.2:p.Ala430Val
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1289C>T
  hgvsp: ENSP00000284376.3:p.Ala430Val
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.892C>T
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10311
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38555
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala430Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

1-52824403-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824403
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824403
    reference: chr 1
allele count: 3
allele frequency: 2.492563851177321e-5
allele num: 120358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.744C>T
  hgvsp: ENSP00000402440.2:p.Arg249Ter
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1285C>T
  hgvsp: ENSP00000284376.3:p.Arg429Ter
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1846C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1285C>T
  hgvsp: ENSP00000360642.2:p.Arg429Ter
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.888C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-591C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.645C>T
  hgvsp: ENSP00000395921.1:p.Arg216Ter
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13828
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg429Ter
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-52824405-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824405
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824405
    reference: chr 1
allele count: 2
allele frequency: 1.662068277764851e-5
allele num: 120332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.742A>C
  hgvsp: ENSP00000402440.2:p.His248Pro
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1283A>C
  hgvsp: ENSP00000284376.3:p.His428Pro
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.886A>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1844A>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.643A>C
  hgvsp: ENSP00000395921.1:p.His215Pro
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1283A>C
  hgvsp: ENSP00000360642.2:p.His428Pro
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-593A>C
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His428Pro
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

1-52824411-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824411
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824411
    reference: chr 1
allele count: 4
allele frequency: 3.327288758754929e-5
allele num: 120218
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1838G>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.736G>C
  hgvsp: ENSP00000402440.2:p.Arg246Pro
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1277G>C
  hgvsp: ENSP00000360642.2:p.Arg426Pro
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.637G>C
  hgvsp: ENSP00000395921.1:p.Arg213Pro
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-599G>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1277G>C
  hgvsp: ENSP00000284376.3:p.Arg426Pro
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.880G>C
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2625
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg426Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

1-52824412-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824412
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824412
    reference: chr 1
allele count: 2
allele frequency: 1.663893510815308e-5
allele num: 120200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.636C>T
  hgvsp: ENSP00000395921.1:p.Arg213Ter
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1276C>T
  hgvsp: ENSP00000360642.2:p.Arg426Ter
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1837C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-600C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.735C>T
  hgvsp: ENSP00000402440.2:p.Arg246Ter
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.879C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1276C>T
  hgvsp: ENSP00000284376.3:p.Arg426Ter
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13773
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10216
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg426Ter
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

1-52824412-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824412
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824412
    reference: chr 1
allele count: 17
allele frequency: 1.414309484193012e-4
allele num: 120200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.735C>A
  hgvsp: ENST00000450942.2:c.735C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.636C>A
  hgvsp: ENST00000438021.1:c.636C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1276C>A
  hgvsp: ENST00000371586.2:c.1276C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-600C>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1276C>A
  hgvsp: ENST00000284376.3:c.1276C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1837C>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.879C>A
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29516
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38572
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg426Arg
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-52824415-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824415
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824415
    reference: chr 1
allele count: 1
allele frequency: 8.323483877411729e-6
allele num: 120142
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1273A>G
  hgvsp: ENSP00000284376.3:p.Ile425Val
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-603A>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.732A>G
  hgvsp: ENSP00000402440.2:p.Ile245Val
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1273A>G
  hgvsp: ENSP00000360642.2:p.Ile425Val
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.876A>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1834A>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.633A>G
  hgvsp: ENSP00000395921.1:p.Ile212Val
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10219
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile425Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-52824416-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824416
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824416
    reference: chr 1
allele count: 2
allele frequency: 1.66497394315779e-5
allele num: 120122
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1272T>C
  hgvsp: ENST00000284376.3:c.1272T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.632T>C
  hgvsp: ENST00000438021.1:c.632T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.731T>C
  hgvsp: ENST00000450942.2:c.731T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-604T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1272T>C
  hgvsp: ENST00000371586.2:c.1272T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1833T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.875T>C
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29443
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38440
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala424Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

1-52824429-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824429
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824429
    reference: chr 1
allele count: 1
allele frequency: 8.35812911637859e-6
allele num: 119644
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1259A>C
  hgvsp: ENSP00000284376.3:p.Gln420Pro
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.718A>C
  hgvsp: ENSP00000402440.2:p.Gln240Pro
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.862A>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-617A>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1259A>C
  hgvsp: ENSP00000360642.2:p.Gln420Pro
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.619A>C
  hgvsp: ENSP00000395921.1:p.Gln207Pro
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1820A>C
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28588
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9972
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln420Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

1-52824449-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824449
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824450
    reference: chr 1
allele count: 46
allele frequency: 3.907179016749906e-4
allele num: 117732
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.717-20dupC
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.618-20dupC
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.861-20dupC
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1819-20dupC
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1258-20dupC
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1258-20dupC
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-618-20dupC
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4262
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7724
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23069
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7372
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10549
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29490
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2844
  bin: 9.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5809
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

1-52824450-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824450
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824450
    reference: chr 1
allele count: 1
allele frequency: 8.520645524104906e-6
allele num: 117362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.618-20C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-618-20C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.717-20C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.861-20C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1819-20C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1258-20C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1258-20C>T
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21775
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5298
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7281
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD

1-52824451-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824451
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824451
    reference: chr 1
allele count: 21
allele frequency: 1.787781788462848e-4
allele num: 117464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.861-21C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.717-21C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1819-21C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1258-21C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.618-21C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-618-21C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1258-21C>T
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8360
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10079
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5284
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21794
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

1-52824452-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824452
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824452
    reference: chr 1
allele count: 1
allele frequency: 8.521807304893222e-6
allele num: 117346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.618-22C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1258-22C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.717-22C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1819-22C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1258-22C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-618-22C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.861-22C>G
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7182
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2799
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3713
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-52824455-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824455
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824455
    reference: chr 1
allele count: 1
allele frequency: 8.582954252853832e-6
allele num: 116510
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1258-25G>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.618-25G>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1258-25G>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1819-25G>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.717-25G>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-618-25G>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.861-25G>C
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9163
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7742
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5853
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3421
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3803
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

1-52824463-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824463
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824463
    reference: chr 1
allele count: 2
allele frequency: 1.743010527783588e-5
allele num: 114744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1258-33C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.618-33C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.717-33C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-618-33C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1819-33C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1258-33C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.861-33C>T
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13178
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6383
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4040
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5518
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16537
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

1-52824463-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824463
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824463
    reference: chr 1
allele count: 1
allele frequency: 8.715052638917939e-6
allele num: 114744
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.618-33C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1258-33C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1819-33C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1258-33C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.717-33C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.861-33C>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-618-33C>G
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5795
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4040
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16537
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP

1-52824466-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824466
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824466
    reference: chr 1
allele count: 1
allele frequency: 8.866663120001419e-6
allele num: 112782
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-618-36T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1258-36T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.861-36T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1819-36T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.717-36T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1258-36T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.618-36T>C
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11162
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11938
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6836
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7786
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

1-52824467-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824467
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824467
    reference: chr 1
allele count: 1
allele frequency: 8.873586881289154e-6
allele num: 112694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.861-37C>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.717-37C>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1258-37C>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1819-37C>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.618-37C>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-618-37C>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1258-37C>A
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15598
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2785
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7876
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3580
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2867
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD

1-52824471-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824471
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824471
    reference: chr 1
allele count: 1
allele frequency: 9.030323827412451e-6
allele num: 110738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.861-41G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.717-41G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-618-41G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1819-41G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1258-41G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.618-41G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1258-41G>A
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11762
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3308
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6849
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6927
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4514
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9873
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

1-52824474-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824474
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824474
    reference: chr 1
allele count: 1
allele frequency: 9.017783068210512e-6
allele num: 110892
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1258-44T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.861-44T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-618-44T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1258-44T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.717-44T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.618-44T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1819-44T>C
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15954
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10767
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3254
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2782
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11960
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6808
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7491
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4321
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-52824478-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824478
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824478
    reference: chr 1
allele count: 423
allele frequency: 3.869869906501015e-3
allele num: 109306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.717-48C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.618-48C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1258-48C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1819-48C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-618-48C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1258-48C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.861-48C>T
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11587
  bin: 1.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 3.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12531
  bin: 2.25e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 2.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 15855
  bin: 1.75e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3284
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6880
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6892
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5011
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 1
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-52824480-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824480
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824480
    reference: chr 1
allele count: 2
allele frequency: 1.811167659790267e-5
allele num: 110426
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1258-50G>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-618-50G>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.618-50G>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.717-50G>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1819-50G>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.861-50G>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1258-50G>T
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15722
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5008
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6877
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8877
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7081
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6945
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

1-52824482-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824482
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824482
    reference: chr 1
allele count: 1
allele frequency: 9.052067492215222e-6
allele num: 110472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-618-52G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.717-52G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1258-52G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.618-52G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1819-52G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1258-52G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.861-52G>A
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15614
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4177
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3616
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6866
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3421
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-52824648-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824648
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824647
    reference: chr 1
allele count: 84
allele frequency: 7.294452742366876e-4
allele num: 115156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.617+50delT
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1257+50delT
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.716+50delT
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1818+50delT
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-619+50delT
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.860+50delT
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1257+50delT
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9903
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 28088
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 11138
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 2
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: CA
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

1-52824652-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824652
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824652
    reference: chr 1
allele count: 194
allele frequency: 1.685842399805346e-3
allele num: 115076
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1257+47G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.716+47G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1257+47G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.860+47G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-619+47G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.617+47G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1818+47G>A
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 10132
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 3.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 11109
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28173
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8206
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 2
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

1-52824662-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824662
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824662
    reference: chr 1
allele count: 1
allele frequency: 8.693233187287017e-6
allele num: 115032
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1257+37C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-619+37C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.617+37C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1257+37C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.716+37C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1818+37C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.860+37C>T
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37050
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

1-52824667-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824667
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824667
    reference: chr 1
allele count: 2
allele frequency: 1.739039702276403e-5
allele num: 115006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1818+32G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-619+32G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.617+32G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.716+32G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1257+32G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.860+32G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1257+32G>A
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11039
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8160
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-52824670-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824670
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824670
    reference: chr 1
allele count: 1
allele frequency: 8.696257130930847e-6
allele num: 114992
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1257+29T>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.716+29T>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.617+29T>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1257+29T>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.860+29T>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-619+29T>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1818+29T>A
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8094
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37567
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

1-52824680-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824680
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824680
    reference: chr 1
allele count: 21
allele frequency: 1.827803502419664e-4
allele num: 114892
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-619+19A>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1257+19A>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.617+19A>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.716+19A>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.860+19A>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1818+19A>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1257+19A>G
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28521
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10780
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

1-52824681-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824681
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824681
    reference: chr 1
allele count: 2
allele frequency: 1.741250217656277e-5
allele num: 114860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.716+18C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.860+18C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1257+18C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-619+18C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1818+18C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1257+18C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.617+18C>T
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28507
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

1-52824685-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824685
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824685
    reference: chr 1
allele count: 1
allele frequency: 8.695349726966019e-6
allele num: 115004
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.716+14T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1257+14T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-619+14T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.617+14T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.860+14T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1257+14T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1818+14T>C
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38300
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8029
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

1-52824689-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824689
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824689
    reference: chr 1
allele count: 6
allele frequency: 5.216121292207115e-5
allele num: 115028
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1257+10C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.860+10C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1818+10C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.617+10C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.716+10C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1257+10C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-619+10C>T
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28830
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8062
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

1-52824697-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824697
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824697
    reference: chr 1
allele count: 1
allele frequency: 8.687946343243384e-6
allele num: 115102
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.617+2T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.860+2T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-619+2T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1257+2T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1818+2T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.716+2T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1257+2T>C
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10522
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8103
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1257+2T>C
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-52824702-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824702
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824702
    reference: chr 1
allele count: 1
allele frequency: 8.666412451901412e-6
allele num: 115388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.614C>A
  hgvsp: ENST00000438021.1:c.614C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1815C>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-622C>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.857C>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1254C>A
  hgvsp: ENST00000284376.3:c.1254C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.713C>A
  hgvsp: ENST00000450942.2:c.713C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1254C>A
  hgvsp: ENST00000371586.2:c.1254C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8191
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala418Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/1-52824705-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824705
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824705
    reference: chr 1
allele count: 1
allele frequency: 8.662208516683413e-6
allele num: 115444
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.710T>G
  hgvsp: ENSP00000402440.2:p.Ile237Met
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1251T>G
  hgvsp: ENSP00000284376.3:p.Ile417Met
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1251T>G
  hgvsp: ENSP00000360642.2:p.Ile417Met
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.611T>G
  hgvsp: ENSP00000395921.1:p.Ile204Met
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1812T>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.854T>G
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-625T>G
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile417Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

1-52824706-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824706
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824706
    reference: chr 1
allele count: 6
allele frequency: 5.196514870693388e-5
allele num: 115462
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.709T>C
  hgvsp: ENSP00000402440.2:p.Ile237Thr
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.610T>C
  hgvsp: ENSP00000395921.1:p.Ile204Thr
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1811T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1250T>C
  hgvsp: ENSP00000360642.2:p.Ile417Thr
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1250T>C
  hgvsp: ENSP00000284376.3:p.Ile417Thr
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-626T>C
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.853T>C
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29212
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40007
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile417Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

1-52824708-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824708
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824708
    reference: chr 1
allele count: 2
allele frequency: 1.73178165696869e-5
allele num: 115488
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.608C>T
  hgvsp: ENST00000438021.1:c.608C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1248C>T
  hgvsp: ENST00000284376.3:c.1248C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-628C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1248C>T
  hgvsp: ENST00000371586.2:c.1248C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.851C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1809C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.707C>T
  hgvsp: ENST00000450942.2:c.707C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8171
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg416Arg
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

1-52824709-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824709
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824709
    reference: chr 1
allele count: 2
allele frequency: 1.732411690314086e-5
allele num: 115446
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.607G>A
  hgvsp: ENSP00000395921.1:p.Arg203His
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.850G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1247G>A
  hgvsp: ENSP00000360642.2:p.Arg416His
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.706G>A
  hgvsp: ENSP00000402440.2:p.Arg236His
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1247G>A
  hgvsp: ENSP00000284376.3:p.Arg416His
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1808G>A
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-629G>A
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29223
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg416His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

1-52824710-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52824710
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 52824710
    reference: chr 1
allele count: 7
allele frequency: 6.061130833838428e-5
allele num: 115490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000406300
  ensembl transcript: ENST00000438831
  gene symbol: CC2D1B
  hgvsc: ENST00000438831.1:c.-630C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000284376
  ensembl transcript: ENST00000284376
  gene symbol: CC2D1B
  hgvsc: ENST00000284376.3:c.1246C>T
  hgvsp: ENSP00000284376.3:p.Arg416Cys
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000491136
  gene symbol: CC2D1B
  hgvsc: ENST00000491136.2:n.1807C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000402440
  ensembl transcript: ENST00000450942
  gene symbol: CC2D1B
  hgvsc: ENST00000450942.2:c.705C>T
  hgvsp: ENSP00000402440.2:p.Arg236Cys
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154222
  ensembl transcript: ENST00000460261
  gene symbol: CC2D1B
  hgvsc: ENST00000460261.1:n.849C>T
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000360642
  ensembl transcript: ENST00000371586
  gene symbol: CC2D1B
  hgvsc: ENST00000371586.2:c.1246C>T
  hgvsp: ENSP00000360642.2:p.Arg416Cys
  variant of: http://identifiers.org/hgnc/29386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154222
  ensembl protein: ENSP00000395921
  ensembl transcript: ENST00000438021
  gene symbol: CC2D1B
  hgvsc: ENST00000438021.1:c.606C>T
  hgvsp: ENSP00000395921.1:p.Arg203Cys
  variant of: http://identifiers.org/hgnc/29386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29281
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Arg416Cys
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 107
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 120
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3862
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4113
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12501
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2496
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5078
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4003
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.828975820719482e-5
allele num: 10174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.626e0

DP
type: SiteQuality
SIO_000300: 2.449232e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

MQRankSum
type: SiteQuality
SIO_000300: 8.38e-1

QD
type: SiteQuality
SIO_000300: 1.111e1

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2494
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5079
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4112
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3862
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2323
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166044776119403e-4
allele num: 8576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66240
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.44812e6

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 6.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

QD
type: SiteQuality
SIO_000300: 1.373e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

GenotypeQuality
all individuals: 5032
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24184
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1135
bin: 2.25e1
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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3863
bin: 9.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 3.944773175542406e-4
allele num: 10140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66180
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.442772e6

MQRankSum
type: SiteQuality
SIO_000300: 4.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-1

FS
type: SiteQuality
SIO_000300: 2.245e0

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

QD
type: SiteQuality
SIO_000300: 1.157e1

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511761504505049e-5
allele num: 66148
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10116
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.550000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 1.642e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

MQ
type: SiteQuality
SIO_000300: 5.901e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.93e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.99e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

DP
type: SiteQuality
SIO_000300: 2.439379e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 24195
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variant carriers: 24

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66120
num of homozygotes: 0

African
type: Population
allele count: 17
allele frequency: 1.679509978265165e-3
allele num: 10122
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

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

Latino
type: Population
allele count: 7
allele frequency: 6.072172102706454e-4
allele num: 11528
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.437501e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

FS
type: SiteQuality
SIO_000300: 2.647e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.089e1

GenotypeQuality
all individuals: 126
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variant carriers: 0

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

GenotypeQuality
all individuals: 3971
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variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513225591671206e-5
allele num: 66084
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10100
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.785e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.77e-1

DP
type: SiteQuality
SIO_000300: 2.434776e6

VQSLOD
type: SiteQuality
SIO_000300: -1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.752e0

MQ
type: SiteQuality
SIO_000300: 5.865e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.92e0

QD
type: SiteQuality
SIO_000300: 6.9e0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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: 723
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GenotypeQuality
all individuals: 150
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.169043722235212e-4
allele num: 8554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514921981517952e-5
allele num: 66010
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.153e1

DP
type: SiteQuality
SIO_000300: 2.429444e6

VQSLOD
type: SiteQuality
SIO_000300: 6.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
all individuals: 2390
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.097801364670205e-5
allele num: 65950
num of homozygotes: 0

African
type: Population
allele count: 202
allele frequency: 2.02485966319166e-2
allele num: 9976
num of homozygotes: 3

Latino
type: Population
allele count: 8
allele frequency: 6.944444444444445e-4
allele num: 11520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.91e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.15e-1

FS
type: SiteQuality
SIO_000300: 1.361e0

QD
type: SiteQuality
SIO_000300: 6.51e0

DP
type: SiteQuality
SIO_000300: 2.42145e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.419e0

MQ
type: SiteQuality
SIO_000300: 5.327e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 24201
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516898246465627e-5
allele num: 65924
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9978
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.679e0

FS
type: SiteQuality
SIO_000300: 1.125e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.491e0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.47e-1

MQ
type: SiteQuality
SIO_000300: 5.9e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.47e-1

QD
type: SiteQuality
SIO_000300: 7.9e0

DP
type: SiteQuality
SIO_000300: 2.415867e6

GenotypeQuality
all individuals: 726
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
all individuals: 264
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GenotypeQuality
all individuals: 2309
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.033888534935227e-5
allele num: 65922
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.415834e6

QD
type: SiteQuality
SIO_000300: 1.38e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.31e-1

FS
type: SiteQuality
SIO_000300: 3.353e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.22e-1

GenotypeQuality
all individuals: 1136
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1563
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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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 276
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.037482534475427e-5
allele num: 65844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9918
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.927e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

FS
type: SiteQuality
SIO_000300: 9.909000000000001e0

QD
type: SiteQuality
SIO_000300: 1.618e1

VQSLOD
type: SiteQuality
SIO_000300: -1.445e0

DP
type: SiteQuality
SIO_000300: 2.399187e6

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

GenotypeQuality
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bin: 6.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 1370
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2283
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GenotypeQuality
all individuals: 3848
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

African
type: Population
allele count: 36
allele frequency: 3.642987249544627e-3
allele num: 9882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519849230956289e-5
allele num: 65796
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16330
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.17e0

VQSLOD
type: SiteQuality
SIO_000300: 2.38e0

FS
type: SiteQuality
SIO_000300: 2.363e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.399006e6

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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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variant carriers: 0

GenotypeQuality
all individuals: 24148
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variant carriers: 1

GenotypeQuality
all individuals: 800
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.122199093914534e-5
allele num: 16334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.400615e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.01e-1

FS
type: SiteQuality
SIO_000300: 4.363e0

MQ
type: SiteQuality
SIO_000300: 6.098e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.002e0

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
SIO_000300: 1.474e1

MQRankSum
type: SiteQuality
SIO_000300: 5.28e-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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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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: 900
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66516
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.771823e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e0

QD
type: SiteQuality
SIO_000300: 9.15e0

VQSLOD
type: SiteQuality
SIO_000300: -1.081e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2918
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.292e0

FS
type: SiteQuality
SIO_000300: 1.165e0

VQSLOD
type: SiteQuality
SIO_000300: 3.1e-1

DP
type: SiteQuality
SIO_000300: 1.773408e6

QD
type: SiteQuality
SIO_000300: 1.046e1

MQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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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variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

East Asian
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: 902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503759398496241e-5
allele num: 66500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.71e-1

QD
type: SiteQuality
SIO_000300: 1.068e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

FS
type: SiteQuality
SIO_000300: 9.263999999999999e0

DP
type: SiteQuality
SIO_000300: 1.778029e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.393e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-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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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.706853038245001e-5
allele num: 10302
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66504
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.531e1

DP
type: SiteQuality
SIO_000300: 1.778141e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.79e-1

FS
type: SiteQuality
SIO_000300: 1.893e0

MQRankSum
type: SiteQuality
SIO_000300: 2.35e0

MQ
type: SiteQuality
SIO_000300: 5.794e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 40
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variant carriers: 0

Latino
type: Population
allele count: 6
allele frequency: 5.202913631633715e-4
allele num: 11532
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66476
num of homozygotes: 0

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

European (Finnish)
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allele count: 3
allele frequency: 4.552352048558422e-4
allele num: 6590
num of homozygotes: 0

African
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allele count: 9
allele frequency: 8.756567425569177e-4
allele num: 10278
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

DP
type: SiteQuality
SIO_000300: 1.779718e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-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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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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European (Non-Finnish)
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allele count: 5
allele frequency: 7.522416802070169e-5
allele num: 66468
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.731413001167769e-5
allele num: 10276
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.779341e6

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

QD
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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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504483360414034e-5
allele num: 66468
num of homozygotes: 0

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

MQ
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.43e-1

InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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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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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66460
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

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

QD
type: SiteQuality
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MQ
type: SiteQuality
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FS
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MQRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.011322572874006e-5
allele num: 66416
num of homozygotes: 0

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

InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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SIO_000300: -9.6e-2

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
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MQRankSum
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FS
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SIO_000300: 5.637e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66360
num of homozygotes: 0

ClippingRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.927e1

QD
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66334
num of homozygotes: 0

South Asian
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allele frequency: 1.214034235765449e-4
allele num: 16474
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10234
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

MQ
type: SiteQuality
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FS
type: SiteQuality
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QD
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VQSLOD
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BaseQRankSum
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DP
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MQRankSum
type: SiteQuality
SIO_000300: 2.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.508250128201261e-5
allele num: 66302
num of homozygotes: 0

South Asian
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allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.77737e6

InbreedingCoeff
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MQRankSum
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FS
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QD
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.913e1

VQSLOD
type: SiteQuality
SIO_000300: -3.028e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.79e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66300
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.118e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

DP
type: SiteQuality
SIO_000300: 1.777293e6

MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

VQSLOD
type: SiteQuality
SIO_000300: 9.72e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.508750754375377e-5
allele num: 66280
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Latino
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allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

East Asian
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African
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.33e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
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DP
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ClippingRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 900
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European (Non-Finnish)
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allele num: 66276
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South Asian
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Latino
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allele frequency: 3.473428273706148e-4
allele num: 11516
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East Asian
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allele frequency: 3.477051460361613e-4
allele num: 8628
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European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

FS
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MQRankSum
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VQSLOD
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MQ
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DP
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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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European (Non-Finnish)
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allele count: 1
allele frequency: 1.510026576467746e-5
allele num: 66224
num of homozygotes: 0

Latino
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Other
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allele frequency: 0.0e0
allele num: 900
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African
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East Asian
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allele frequency: 0.0e0
allele num: 8620
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European (Finnish)
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allele num: 6590
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South Asian
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ReadPosRankSum
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ClippingRankSum
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QD
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MQRankSum
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FS
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BaseQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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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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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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South Asian
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allele frequency: 2.735229759299781e-3
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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MQRankSum
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QD
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DP
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FS
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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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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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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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

European (Finnish)
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allele num: 6590
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East Asian
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Other
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South Asian
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allele num: 16450
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ReadPosRankSum
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VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.252e1

DP
type: SiteQuality
SIO_000300: 1.774665e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-1

FS
type: SiteQuality
SIO_000300: 2.933e0

MQRankSum
type: SiteQuality
SIO_000300: 7.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

GenotypeQuality
all individuals: 107
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2680
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2866
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 635
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10341
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38670
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215953307392996e-4
allele num: 16448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66190
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

QD
type: SiteQuality
SIO_000300: 1.471e1

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

FS
type: SiteQuality
SIO_000300: 1.772e0

DP
type: SiteQuality
SIO_000300: 1.774332e6

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1298
bin: 8.25e1
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GenotypeQuality
all individuals: 523
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2650
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variant carriers: 0

GenotypeQuality
all individuals: 2678
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510665296996797e-5
allele num: 66196
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.72e-1

FS
type: SiteQuality
SIO_000300: 9.324e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

DP
type: SiteQuality
SIO_000300: 1.7741e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

QD
type: SiteQuality
SIO_000300: 1.19e1

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2666
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2642
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511670093118878e-5
allele num: 66152
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e0

FS
type: SiteQuality
SIO_000300: 1.4835e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

DP
type: SiteQuality
SIO_000300: 1.772899e6

QD
type: SiteQuality
SIO_000300: 1.029e1

VQSLOD
type: SiteQuality
SIO_000300: -2.163e0

MQRankSum
type: SiteQuality
SIO_000300: 9.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.19e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
all individuals: 1294
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38678
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2653
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 632
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variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2861
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2634
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.023523009010099e-5
allele num: 66148
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

DP
type: SiteQuality
SIO_000300: 1.772791e6

FS
type: SiteQuality
SIO_000300: 2.811e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.774e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 1.318e1

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2859
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2644
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variant carriers: 0

GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
all individuals: 38646
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variant carriers: 0

GenotypeQuality
all individuals: 1291
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variant carriers: 0

GenotypeQuality
all individuals: 101
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GenotypeQuality
all individuals: 10285
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variant carriers: 0

GenotypeQuality
all individuals: 2631
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variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512172992590352e-5
allele num: 66130
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.086427267194157e-5
allele num: 16430
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.771444e6

QD
type: SiteQuality
SIO_000300: 1.148e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

FS
type: SiteQuality
SIO_000300: 1.059e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQRankSum
type: SiteQuality
SIO_000300: 5.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.26e-1

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38517
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
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GenotypeQuality
all individuals: 1280
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variant carriers: 0

GenotypeQuality
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 87
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variant carriers: 0

GenotypeQuality
all individuals: 124
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variant carriers: 0

GenotypeQuality
all individuals: 10227
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variant carriers: 0

GenotypeQuality
all individuals: 2604
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.645760743321719e-4
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66058
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.4087e1

DP
type: SiteQuality
SIO_000300: 1.769095e6

QD
type: SiteQuality
SIO_000300: 8.949999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

MQ
type: SiteQuality
SIO_000300: 5.893e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

GenotypeQuality
all individuals: 90
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38572
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2602
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.027825718351652e-5
allele num: 66054
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.305e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-1

FS
type: SiteQuality
SIO_000300: 1.899e0

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.42e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

QD
type: SiteQuality
SIO_000300: 1.235e1

DP
type: SiteQuality
SIO_000300: 1.768984e6

GenotypeQuality
all individuals: 10216
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.211130287340661e-4
allele num: 66054
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 7.835625979453248e-4
allele num: 11486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.42e-2

FS
type: SiteQuality
SIO_000300: 1.899e0

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

QD
type: SiteQuality
SIO_000300: 1.235e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.768984e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.305e0

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 773
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 141
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514738404677512e-5
allele num: 66018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.765919e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

VQSLOD
type: SiteQuality
SIO_000300: -1.988e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.39e0

QD
type: SiteQuality
SIO_000300: 1.311e1

GenotypeQuality
all individuals: 1266
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
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GenotypeQuality
all individuals: 2835
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 107
bin: 3.75e1
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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: 7.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.030027573250917e-5
allele num: 66006
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 1.48e0

DP
type: SiteQuality
SIO_000300: 1.765298e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

QD
type: SiteQuality
SIO_000300: 1.209e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.12369871402327e-5
allele num: 16330
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

QD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

DP
type: SiteQuality
SIO_000300: 1.742969e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

Latino
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allele count: 2
allele frequency: 1.783484929552345e-4
allele num: 11214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

African
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allele count: 44
allele frequency: 4.399120175964807e-3
allele num: 10002
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64678
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16090
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

DP
type: SiteQuality
SIO_000300: 1.584739e6

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

QD
type: SiteQuality
SIO_000300: 1.087e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

FS
type: SiteQuality
SIO_000300: 1.562e0

MQRankSum
type: SiteQuality
SIO_000300: 5.26e-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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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.550387596899225e-5
allele num: 64500
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9902
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16048
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

QD
type: SiteQuality
SIO_000300: 1.002e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.714e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.556414e6

VQSLOD
type: SiteQuality
SIO_000300: 1.37e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 21

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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bin: 2.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9978
num of homozygotes: 0

South Asian
type: Population
allele count: 20
allele frequency: 1.245485116452858e-3
allele num: 16058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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: 1
allele frequency: 8.936550491510277e-5
allele num: 11190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.724e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.232e1

DP
type: SiteQuality
SIO_000300: 1.554626e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1048
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552072016141549e-5
allele num: 64430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11188
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16040
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.662e0

QD
type: SiteQuality
SIO_000300: 4.13e0

DP
type: SiteQuality
SIO_000300: 1.538402e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.87e-1

FS
type: SiteQuality
SIO_000300: 2.199e0

VQSLOD
type: SiteQuality
SIO_000300: -2.824e0

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9930
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63914
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.203079884504331e-4
allele num: 8312
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.885e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.261e0

DP
type: SiteQuality
SIO_000300: 1.460141e6

MQRankSum
type: SiteQuality
SIO_000300: -2.86e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.024170421958214e-4
allele num: 9764
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.590179054161498e-5
allele num: 62886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10960
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8122
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 1.037e0

VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.590179054161498e-5
allele num: 62886
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15794
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.621796951021732e-5
allele num: 61660
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.88e-1

ClippingRankSum
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DP
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MQ
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VQSLOD
type: SiteQuality
SIO_000300: -4.416e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

FS
type: SiteQuality
SIO_000300: 9.513e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.56e-1

QD
type: SiteQuality
SIO_000300: 1.413e1

GenotypeQuality
all individuals: 4189
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6480
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6797
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7952
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.62295507660348e-5
allele num: 61616
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: 6300
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.308958e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.313e0

MQRankSum
type: SiteQuality
SIO_000300: -1.112e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: -1.894e0

QD
type: SiteQuality
SIO_000300: 6.03e0

GenotypeQuality
all individuals: 1085
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1152
bin: 7.5e0
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 938
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2781
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1490
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.653111155194075e-5
allele num: 60492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7808
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10598
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.448e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.896e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.11e-1

MQ
type: SiteQuality
SIO_000300: 5.83e1

QD
type: SiteQuality
SIO_000300: 1.414e1

DP
type: SiteQuality
SIO_000300: 1.277073e6

GenotypeQuality
all individuals: 263
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6882
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1150
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 547
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variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60606
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: 9270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.601537475976938e-4
allele num: 6244
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.46e-1

QD
type: SiteQuality
SIO_000300: 1.194e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.54e-1

DP
type: SiteQuality
SIO_000300: 1.274873e6

FS
type: SiteQuality
SIO_000300: 4.31e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

VQSLOD
type: SiteQuality
SIO_000300: -8.396e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

GenotypeQuality
all individuals: 446
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 8372
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variant carriers: 2

GenotypeQuality
all individuals: 799
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variant carriers: 1

GenotypeQuality
all individuals: 3159
bin: 9.75e1
variant carriers: 405

GenotypeQuality
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bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 3082
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variant carriers: 3

GenotypeQuality
all individuals: 944
bin: 8.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15328
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.784688995215311e-3
allele num: 836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 369
allele frequency: 6.181525781485576e-3
allele num: 59694
num of homozygotes: 1

Latino
type: Population
allele count: 28
allele frequency: 2.703224560726009e-3
allele num: 10358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7692
num of homozygotes: 0

African
type: Population
allele count: 19
allele frequency: 2.067014795474326e-3
allele num: 9192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.834031582339671e-4
allele num: 6206
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.376e1

VQSLOD
type: SiteQuality
SIO_000300: 6.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.26001e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.134e0

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

GenotypeQuality
all individuals: 4217
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1189
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 890
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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
all individuals: 448
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variant carriers: 0

GenotypeQuality
all individuals: 2794
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.656836105772417e-5
allele num: 60356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15352
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6238
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.054629824931449e-4
allele num: 9482
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.145e1

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.849e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.411e0

DP
type: SiteQuality
SIO_000300: 1.263136e6

MQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.28e-1

GenotypeQuality
all individuals: 6904
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2795
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 250
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GenotypeQuality
all individuals: 1569
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variant carriers: 0

GenotypeQuality
all individuals: 6892
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variant carriers: 0

GenotypeQuality
all individuals: 3246
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variant carriers: 0

GenotypeQuality
all individuals: 978
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variant carriers: 0

GenotypeQuality
all individuals: 1544
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4969
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7670
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60404
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.54380606986066e-5
allele num: 10478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9506
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.519e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.008e0

DP
type: SiteQuality
SIO_000300: 1.265198e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.709e0

FS
type: SiteQuality
SIO_000300: 1.0354e1

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 8191
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2333
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GenotypeQuality
all individuals: 1179
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 473
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variant carriers: 1

GenotypeQuality
all individuals: 1213
bin: 9.75e1
variant carriers: 81

GenotypeQuality
all individuals: 35477
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variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 4.75e1
variant carriers: 1

African
type: Population
allele count: 2
allele frequency: 2.195389681668496e-4
allele num: 9110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.650445989270863e-4
allele num: 63006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.983240223463687e-4
allele num: 11456
num of homozygotes: 0

South Asian
type: Population
allele count: 50
allele frequency: 3.179448047818899e-3
allele num: 15726
num of homozygotes: 2

Other
type: Population
allele count: 1
allele frequency: 1.17096018735363e-3
allele num: 854
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.029e1

QD
type: SiteQuality
SIO_000300: 1.564e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

FS
type: SiteQuality
SIO_000300: 1.171e0

VQSLOD
type: SiteQuality
SIO_000300: 4.12e0

DP
type: SiteQuality
SIO_000300: 1.571182e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.58e-1

GenotypeQuality
all individuals: 216
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 9.25e1
variant carriers: 3

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1199
bin: 9.75e1
variant carriers: 188

GenotypeQuality
all individuals: 632
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GenotypeQuality
all individuals: 1131
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 5.498130635583901e-4
allele num: 9094
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 27
allele frequency: 4.167953071935782e-3
allele num: 6478
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 138
allele frequency: 2.191658990566337e-3
allele num: 62966
num of homozygotes: 1

Latino
type: Population
allele count: 9
allele frequency: 7.858889276982187e-4
allele num: 11452
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 9.545628102329134e-4
allele num: 15714
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.569758e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 1.153e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.79e0

QD
type: SiteQuality
SIO_000300: 1.317e1

GenotypeQuality
all individuals: 2047
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
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GenotypeQuality
all individuals: 783
bin: 3.75e1
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GenotypeQuality
all individuals: 8176
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GenotypeQuality
all individuals: 2187
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GenotypeQuality
all individuals: 929
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GenotypeQuality
all individuals: 1081
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variant carriers: 0

GenotypeQuality
all individuals: 734
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variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62908
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.338742393509128e-5
allele num: 15776
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.24e0

DP
type: SiteQuality
SIO_000300: 1.566936e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.419999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.256e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.56e1

GenotypeQuality
all individuals: 243
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
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GenotypeQuality
all individuals: 430
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GenotypeQuality
all individuals: 37570
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GenotypeQuality
all individuals: 2154
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GenotypeQuality
all individuals: 437
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GenotypeQuality
all individuals: 987
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 2
allele frequency: 1.266784899923993e-4
allele num: 15788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62906
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6484
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African
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.13e-1

MQ
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.568649e6

FS
type: SiteQuality
SIO_000300: 4.538e0

VQSLOD
type: SiteQuality
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QD
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MQRankSum
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SIO_000300: -3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.75e-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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bin: 2.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11434
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.591039266849106e-5
allele num: 62852
num of homozygotes: 0

Other
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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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African
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allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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QD
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MQRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.13e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
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European (Non-Finnish)
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allele count: 13
allele frequency: 2.070723160242115e-4
allele num: 62780
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8962
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European (Finnish)
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allele count: 8
allele frequency: 1.236476043276662e-3
allele num: 6470
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 8940
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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 count: 2
allele frequency: 3.187454180346157e-5
allele num: 62746
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.357e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.261e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6478
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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: 854
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.592458118351487e-5
allele num: 62796
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.2303e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.148e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8494
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South Asian
type: Population
allele count: 1
allele frequency: 6.244536030972898e-5
allele num: 16014
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.756567425569177e-5
allele num: 11420
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6480
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African
type: Population
allele count: 4
allele frequency: 4.45335114673792e-4
allele num: 8982
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62780
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -2.4e-3

BaseQRankSum
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SIO_000300: -3.59e-1

QD
type: SiteQuality
SIO_000300: 9.82e0

MQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

DP
type: SiteQuality
SIO_000300: 1.56936e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6418
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South Asian
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.591444394932841e-5
allele num: 62836
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MQRankSum
type: SiteQuality
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DP
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VQSLOD
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MQ
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FS
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InbreedingCoeff
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BaseQRankSum
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QD
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ClippingRankSum
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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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Other
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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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allele num: 62952
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East Asian
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South Asian
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ReadPosRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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QD
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MQ
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MQRankSum
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ClippingRankSum
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VQSLOD
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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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European (Finnish)
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allele num: 6504
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Latino
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European (Non-Finnish)
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African
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East Asian
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South Asian
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Other
type: Population
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BaseQRankSum
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VQSLOD
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MQRankSum
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QD
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InbreedingCoeff
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FS
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DP
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ReadPosRankSum
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MQ
type: SiteQuality
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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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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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allele frequency: 9.526833915528739e-5
allele num: 62980
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Other
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European (Finnish)
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allele num: 6500
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African
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MQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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QD
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BaseQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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MQ
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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: 2219
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1942
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 381
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16162
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9050
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.175207976122436e-5
allele num: 62988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.575594e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

FS
type: SiteQuality
SIO_000300: 2.603e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.875e0

QD
type: SiteQuality
SIO_000300: 1.324e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 40158
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1910
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8119
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16166
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.209944751381215e-4
allele num: 9050
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 1.23e1

VQSLOD
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.505e0

DP
type: SiteQuality
SIO_000300: 1.576395e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.69e-1

FS
type: SiteQuality
SIO_000300: 6.68e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-1