17-78063531-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063531
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063531
    reference: chr 17
allele count: 1
allele frequency: 8.287888080359362e-6
allele num: 120658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.342A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2712-32A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2712-32A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2249-32A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.2963-32A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.356-32A>G
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12919
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36470
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

17-78063533-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063533
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063533
    reference: chr 17
allele count: 1
allele frequency: 8.28775070445881e-6
allele num: 120660
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.344T>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2712-30T>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.2963-30T>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2712-30T>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.356-30T>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2249-30T>C
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6766
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-78063540-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063540
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063540
    reference: chr 17
allele count: 1
allele frequency: 8.28775070445881e-6
allele num: 120660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.2963-23C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2712-23C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.351C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2712-23C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2249-23C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.356-23C>T
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6765
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ

17-78063542-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063542
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063542
    reference: chr 17
allele count: 22
allele frequency: 1.823214492897751e-4
allele num: 120666
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2249-21C>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.356-21C>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2712-21C>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.2963-21C>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2712-21C>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.353C>G
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27621
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6766
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9697
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

17-78063543-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063543
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063543
    reference: chr 17
allele count: 1
allele frequency: 8.287613333112331e-6
allele num: 120662
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2712-20T>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.356-20T>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.2963-20T>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2712-20T>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.354T>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2249-20T>C
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12932
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6746
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-78063546-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063546
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063546
    reference: chr 17
allele count: 1
allele frequency: 8.287338604080686e-6
allele num: 120666
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2712-17C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2249-17C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.357C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.356-17C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2712-17C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.2963-17C>T
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36606
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9696
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6746
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

17-78063550-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063550
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063550
    reference: chr 17
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2712-13C>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.2963-13C>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.361C>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2712-13C>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2249-13C>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.356-13C>G
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6745
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

17-78063552-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063552
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063553
    reference: chr 17
allele count: 1
allele frequency: 8.286514526259965e-6
allele num: 120678
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.2963-10dupA
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2712-10dupA
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2249-10dupA
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.364dupA
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.356-10dupA
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2712-10dupA
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6745
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 9.25e1
  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: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-78063553-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063553
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063553
    reference: chr 17
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.364A>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2712-10A>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2712-10A>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2249-10A>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.2963-10A>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.356-10A>C
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36669
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum

17-78063553-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063553
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063553
    reference: chr 17
allele count: 2
allele frequency: 1.657357840131263e-5
allele num: 120674
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2249-10A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.364A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2712-10A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.356-10A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2712-10A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.2963-10A>G
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36669
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9691
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

17-78063554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063554
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063554
    reference: chr 17
allele count: 1
allele frequency: 8.286514526259965e-6
allele num: 120678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2249-9C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2712-9C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.2963-9C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.356-9C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.365C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2712-9C>T
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12939
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36687
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9691
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-78063562-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063562
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063562
    reference: chr 17
allele count: 4
allele frequency: 3.314660744472803e-5
allele num: 120676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2712-1G>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2249-1G>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.356-1G>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.2963-1G>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.373G>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2712-1G>T
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27685
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36712
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
hgvs: c.2712-1G>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

17-78063563-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063563
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063563
    reference: chr 17
allele count: 1
allele frequency: 8.286514526259965e-6
allele num: 120678
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.356A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2249A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2712A>G
  hgvsp: ENST00000397545.4:c.2712A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.2963A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2712A>G
  hgvsp: ENST00000374877.3:c.2712A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.374A>G
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9692
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
hgvs: c.2712A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-78063566-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063566
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063566
    reference: chr 17
allele count: 1
allele frequency: 8.286514526259965e-6
allele num: 120678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.359C>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2252C>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.377C>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.2966C>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2715C>A
  hgvsp: ENSP00000364011.3:p.His905Gln
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2715C>A
  hgvsp: ENSP00000380679.4:p.His905Gln
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9696
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36726
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His905Gln
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

17-78063573-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063573
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063573
    reference: chr 17
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2259A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2722A>G
  hgvsp: ENSP00000364011.3:p.Met908Val
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.366A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2722A>G
  hgvsp: ENSP00000380679.4:p.Met908Val
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.2973A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.384A>G
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9579
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36810
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met908Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

17-78063585-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063585
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063585
    reference: chr 17
allele count: 3
allele frequency: 2.485789569626966e-5
allele num: 120686
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2734A>G
  hgvsp: ENSP00000364011.3:p.Lys912Glu
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.378A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.2985A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2271A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.396A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2734A>G
  hgvsp: ENSP00000380679.4:p.Lys912Glu
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2452
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36802
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys912Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

17-78063588-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063588
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063588
    reference: chr 17
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2737A>G
  hgvsp: ENSP00000364011.3:p.Lys913Glu
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2737A>G
  hgvsp: ENSP00000380679.4:p.Lys913Glu
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.2988A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2274A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.399A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.381A>G
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys913Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

17-78063592-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063592
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063592
    reference: chr 17
allele count: 1
allele frequency: 8.285690612312537e-6
allele num: 120690
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.385T>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.403T>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.2992T>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2741T>G
  hgvsp: ENSP00000364011.3:p.Ile914Ser
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2278T>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2741T>G
  hgvsp: ENSP00000380679.4:p.Ile914Ser
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36848
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile914Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

17-78063596-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063596
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063596
    reference: chr 17
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2745A>G
  hgvsp: ENST00000374877.3:c.2745A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.389A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2745A>G
  hgvsp: ENST00000397545.4:c.2745A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2282A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.2996A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.407A>G
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36867
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln915Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-78063601-CAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063601
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063599
    reference: chr 17
allele count: 1
allele frequency: 8.285827919925758e-6
allele num: 120688
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2753_2754delAA
  hgvsp: ENSP00000380679.4:p.Lys918ArgfsTer79
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3004_3005delAA
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.415_416delAA
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2290_2291delAA
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2753_2754delAA
  hgvsp: ENSP00000364011.3:p.Lys918ArgfsTer?
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.397_398delAA
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9701
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36855
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6720
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys918ArgfsTer79
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: CAA
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

17-78063602-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063602
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063602
    reference: chr 17
allele count: 2
allele frequency: 1.657220509761029e-5
allele num: 120684
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.395A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3002A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2751A>G
  hgvsp: ENST00000397545.4:c.2751A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2751A>G
  hgvsp: ENST00000374877.3:c.2751A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2288A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.413A>G
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6719
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala917Ala
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

17-78063613-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063613
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063613
    reference: chr 17
allele count: 1
allele frequency: 8.288025460814215e-6
allele num: 120656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.424G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2762G>A
  hgvsp: ENSP00000380679.4:p.Arg921His
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.406G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3013G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2762G>A
  hgvsp: ENSP00000364011.3:p.Arg921His
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2299G>A
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36765
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6716
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg921His
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

17-78063619-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063619
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063619
    reference: chr 17
allele count: 1
allele frequency: 8.289262089888757e-6
allele num: 120638
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2768C>T
  hgvsp: ENSP00000380679.4:p.Ser923Leu
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2768C>T
  hgvsp: ENSP00000364011.3:p.Ser923Leu
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3019C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2305C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.430C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.412C>T
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9658
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2438
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser923Leu
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

17-78063629-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063629
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063629
    reference: chr 17
allele count: 3
allele frequency: 2.488139866635703e-5
allele num: 120572
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2778C>T
  hgvsp: ENST00000374877.3:c.2778C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2315C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2778C>T
  hgvsp: ENST00000397545.4:c.2778C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.440C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.422C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3029C>T
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9618
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser926Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-78063630-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063630
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063630
    reference: chr 17
allele count: 2
allele frequency: 1.658649859014762e-5
allele num: 120580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2779G>A
  hgvsp: ENSP00000364011.3:p.Glu927Lys
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.423G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2316G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2779G>A
  hgvsp: ENSP00000380679.4:p.Glu927Lys
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3030G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.441G>A
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12861
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu927Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

17-78063633-A-ATCGGCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063633
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063639
    reference: chr 17
allele count: 1
allele frequency: 8.294074713025015e-6
allele num: 120568
alternate allele: ATCGGCC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.445_450dupTCGGCC
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.427_432dupTCGGCC
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2320_2325dupTCGGCC
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2783_2788dupTCGGCC
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2783_2788dupTCGGCC
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3034_3039dupTCGGCC
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36692
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly929_Gln930insLeuGly
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

17-78063635-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063635
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063635
    reference: chr 17
allele count: 1
allele frequency: 8.297515723792297e-6
allele num: 120518
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2321C>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2784C>G
  hgvsp: ENSP00000380679.4:p.Ile928Met
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3035C>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.428C>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2784C>G
  hgvsp: ENSP00000364011.3:p.Ile928Met
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.446C>G
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9567
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36508
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6915
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile928Met
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

17-78063635-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063635
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063635
    reference: chr 17
allele count: 1161
allele frequency: 9.633415755322856e-3
allele num: 120518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2321C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2784C>T
  hgvsp: ENST00000397545.4:c.2784C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.446C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2784C>T
  hgvsp: ENST00000374877.3:c.2784C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3035C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.428C>T
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 4.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.25e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 27550
  bin: 2.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.25e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.75e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 12802
  bin: 3.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 6.75e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.75e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 9625
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 3.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 98
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36508
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9567
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile928Ile
num of homozygotes: 5
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

17-78063636-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063636
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063636
    reference: chr 17
allele count: 87
allele frequency: 7.219797181789514e-4
allele num: 120502
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2785G>A
  hgvsp: ENSP00000364011.3:p.Gly929Ser
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3036G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2322G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.447G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.429G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2785G>A
  hgvsp: ENSP00000380679.4:p.Gly929Ser
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9821
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13002
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28097
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 5838
  bin: 9.75e1
  variant carriers: 86
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37340
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9749
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly929Ser
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

17-78063643-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063643
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063643
    reference: chr 17
allele count: 2
allele frequency: 1.66096402351925e-5
allele num: 120412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2792C>T
  hgvsp: ENSP00000380679.4:p.Thr931Met
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2329C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.436C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3043C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2792C>T
  hgvsp: ENSP00000364011.3:p.Thr931Met
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.454C>T
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37213
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr931Met
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD

17-78063644-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063644
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063644
    reference: chr 17
allele count: 4
allele frequency: 3.322038402763936e-5
allele num: 120408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.437G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2793G>A
  hgvsp: ENST00000397545.4:c.2793G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2330G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2793G>A
  hgvsp: ENST00000374877.3:c.2793G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3044G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.455G>A
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9708
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr931Thr
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: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

17-78063645-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063645
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063645
    reference: chr 17
allele count: 2
allele frequency: 1.660908849322349e-5
allele num: 120416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2331G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2794G>A
  hgvsp: ENSP00000380679.4:p.Glu932Lys
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2794G>A
  hgvsp: ENSP00000364011.3:p.Glu932Lys
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.438G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3045G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.456G>A
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu932Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

17-78063649-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063649
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063649
    reference: chr 17
allele count: 66
allele frequency: 5.483822722967247e-4
allele num: 120354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3049T>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2798T>G
  hgvsp: ENSP00000364011.3:p.Ile933Ser
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.442T>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2335T>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2798T>G
  hgvsp: ENSP00000380679.4:p.Ile933Ser
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.460T>G
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 27961
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12842
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5747
  bin: 9.75e1
  variant carriers: 65
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile933Ser
num of homozygotes: 1
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

17-78063651-C-CGGGCCATGAAGGGCGAGATCCACA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063651
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063675
    reference: chr 17
allele count: 1
allele frequency: 8.311032063961702e-6
allele num: 120322
alternate allele: CGGGCCATGAAGGGCGAGATCCACA
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsp: ENSP00000364011.3:p.Ala935_Arg942dup
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsp: ENSP00000380679.4:p.Ala935_Arg942dup
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9660
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5708
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala935_Arg942dup
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

17-78063651-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063651
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063651
    reference: chr 17
allele count: 1
allele frequency: 8.311032063961702e-6
allele num: 120322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3051C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2800C>T
  hgvsp: ENSP00000380679.4:p.Arg934Trp
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2800C>T
  hgvsp: ENSP00000364011.3:p.Arg934Trp
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.444C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.462C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2337C>T
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12835
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37240
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9660
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5708
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg934Trp
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-78063652-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063652
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063652
    reference: chr 17
allele count: 18
allele frequency: 1.498077467250362e-4
allele num: 120154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3052G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2801G>A
  hgvsp: ENSP00000380679.4:p.Arg934Gln
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.463G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2801G>A
  hgvsp: ENSP00000364011.3:p.Arg934Gln
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2338G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.445G>A
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12729
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9957
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9475
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5702
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg934Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

17-78063652-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063652
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063652
    reference: chr 17
allele count: 1
allele frequency: 8.322652595835345e-6
allele num: 120154
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3052G>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2801G>C
  hgvsp: ENSP00000380679.4:p.Arg934Pro
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2338G>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.445G>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2801G>C
  hgvsp: ENSP00000364011.3:p.Arg934Pro
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.463G>C
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27796
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5702
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36751
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg934Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

17-78063663-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063663
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063663
    reference: chr 17
allele count: 2
allele frequency: 1.66688891852247e-5
allele num: 119984
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2349G>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.474G>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2812G>T
  hgvsp: ENSP00000364011.3:p.Gly938Cys
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3063G>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2812G>T
  hgvsp: ENSP00000380679.4:p.Gly938Cys
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.456G>T
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9401
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly938Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-78063665-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063665
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063665
    reference: chr 17
allele count: 1
allele frequency: 8.340979230961715e-6
allele num: 119890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.458C>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3065C>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2351C>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2814C>G
  hgvsp: ENST00000374877.3:c.2814C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2814C>G
  hgvsp: ENST00000397545.4:c.2814C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.476C>G
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9334
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly938Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum

17-78063665-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063665
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063665
    reference: chr 17
allele count: 1
allele frequency: 8.340979230961715e-6
allele num: 119890
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.458C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2351C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3065C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2814C>T
  hgvsp: ENST00000397545.4:c.2814C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.476C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2814C>T
  hgvsp: ENST00000374877.3:c.2814C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9334
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly938Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

17-78063666-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063666
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063666
    reference: chr 17
allele count: 1
allele frequency: 8.345434212942099e-6
allele num: 119826
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.477G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2815G>A
  hgvsp: ENSP00000364011.3:p.Glu939Lys
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2352G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2815G>A
  hgvsp: ENSP00000380679.4:p.Glu939Lys
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.459G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3066G>A
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27362
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2025
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5649
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu939Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-78063673-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063673
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063673
    reference: chr 17
allele count: 6
allele frequency: 5.020752443432856e-5
allele num: 119504
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2822A>C
  hgvsp: ENSP00000380679.4:p.His941Pro
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.466A>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2822A>C
  hgvsp: ENSP00000364011.3:p.His941Pro
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3073A>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2359A>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.484A>C
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5639
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His941Pro
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

17-78063673-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063673
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063673
    reference: chr 17
allele count: 1
allele frequency: 8.367920739054759e-6
allele num: 119504
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2359A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2822A>G
  hgvsp: ENSP00000380679.4:p.His941Arg
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.466A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3073A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.484A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2822A>G
  hgvsp: ENSP00000364011.3:p.His941Arg
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36713
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His941Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

17-78063674-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063674
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063674
    reference: chr 17
allele count: 2
allele frequency: 1.674761346508122e-5
allele num: 119420
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2823C>G
  hgvsp: ENSP00000364011.3:p.His941Gln
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.485C>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2360C>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3074C>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2823C>G
  hgvsp: ENSP00000380679.4:p.His941Gln
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.467C>G
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12099
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2146
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His941Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-78063675-A-ACTGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063675
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063679
    reference: chr 17
allele count: 5
allele frequency: 4.19104457595011e-5
allele num: 119302
alternate allele: ACTGT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2824_2825insCTGT
  hgvsp: ENSP00000380679.4:p.Arg942ThrfsTer57
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.486_487insCTGT
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3075_3076insCTGT
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2361_2362insCTGT
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.468_469insCTGT
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2824_2825insCTGT
  hgvsp: ENSP00000364011.3:p.Arg942ThrfsTer?
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26805
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9095
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg942ThrfsTer57
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-78063687-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063687
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063687
    reference: chr 17
allele count: 1
allele frequency: 8.502678343678259e-6
allele num: 117610
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+4A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+4A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+4A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+4A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2832+4A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+4A>G
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11187
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3650
  bin: 2.25e1
  variant carriers: 0
hgvs: c.2832+4A>G
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

17-78063687-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063687
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063687
    reference: chr 17
allele count: 2
allele frequency: 1.700535668735652e-5
allele num: 117610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+4A>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+4A>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+4A>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+4A>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+4A>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2832+4A>T
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11187
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
hgvs: c.2832+4A>T
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

17-78063688-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063688
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063688
    reference: chr 17
allele count: 1
allele frequency: 8.502822937215155e-6
allele num: 117608
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2832+5G>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+5G>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+5G>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+5G>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+5G>C
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+5G>C
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11153
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7986
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5607
  bin: 9.75e1
  variant carriers: 1
hgvs: c.2832+5G>C
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-78063689-GGGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063689
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063686
    reference: chr 17
allele count: 1
allele frequency: 8.506149946411256e-6
allele num: 117562
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+11_494+13delGAG
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2832+11_2832+13delGAG
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+11_2369+13delGAG
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+11_2832+13delGAG
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+11_3083+13delGAG
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+11_476+13delGAG
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25023
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
hgvs: c.2832+11_2832+13delGAG
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: GGGA
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

17-78063698-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063698
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063698
    reference: chr 17
allele count: 1
allele frequency: 8.655011251514627e-6
allele num: 115540
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+15G>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+15G>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+15G>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2832+15G>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+15G>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+15G>T
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21043
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5595
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6898
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

17-78063699-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063699
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063699
    reference: chr 17
allele count: 6
allele frequency: 5.210051926850871e-5
allele num: 115162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+16C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+16C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2832+16C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+16C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+16C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+16C>T
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20328
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9028
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-78063700-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063700
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063700
    reference: chr 17
allele count: 6
allele frequency: 5.245764045533232e-5
allele num: 114378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2832+17G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+17G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+17G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+17G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+17G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+17G>A
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18595
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7264
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5590
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8538
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24402
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-78063702-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063702
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063702
    reference: chr 17
allele count: 2
allele frequency: 1.750700280112045e-5
allele num: 114240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2832+19C>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+19C>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+19C>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+19C>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+19C>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+19C>A
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7030
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3597
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP

17-78063702-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063702
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063702
    reference: chr 17
allele count: 2
allele frequency: 1.750700280112045e-5
allele num: 114240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+19C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+19C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+19C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+19C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2832+19C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+19C>T
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18664
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8608
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5585
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3597
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

17-78063703-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063703
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063703
    reference: chr 17
allele count: 170
allele frequency: 1.488355804587638e-3
allele num: 114220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+20G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+20G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+20G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+20G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+20G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2832+20G>A
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18667
  bin: 2.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 3.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 6871
  bin: 3.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9251
  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10673
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25866
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3602
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8692
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 3
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-78063706-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063706
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063706
    reference: chr 17
allele count: 2
allele frequency: 1.763512917732122e-5
allele num: 113410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+23G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+23G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2832+23G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+23G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+23G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+23G>A
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16496
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9838
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2752
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4570
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22432
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

17-78063891-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063891
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063891
    reference: chr 17
allele count: 1
allele frequency: 6.84931506849315e-5
allele num: 14600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2833-47G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+208G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+208G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+208G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+208G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+208G>A
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14580
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12411
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-78063894-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063894
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063894
    reference: chr 17
allele count: 1
allele frequency: 6.865302759851709e-5
allele num: 14566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2833-44C>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+211C>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+211C>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+211C>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+211C>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+211C>A
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13855
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11891
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

17-78063897-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063897
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063897
    reference: chr 17
allele count: 1
allele frequency: 6.892748828232699e-5
allele num: 14508
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+214C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+214C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+214C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2833-41C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+214C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+214C>T
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12643
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10782
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5663
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

17-78063903-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063903
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063903
    reference: chr 17
allele count: 1
allele frequency: 6.915629322268326e-5
allele num: 14460
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+220C>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+220C>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+220C>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2833-35C>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+220C>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+220C>G
  variant of: http://identifiers.org/hgnc/26090
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11446
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9844
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5662
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-78063932-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063932
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063932
    reference: chr 17
allele count: 3
allele frequency: 2.094972067039106e-4
allele num: 14320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+249G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+249G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+249G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+249G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2833-6G>A
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+249G>A
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7147
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6597
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 576
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
hgvs: c.2833-6G>A
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

17-78063947-AGAACAACACAGGACGCACACAGGCACGTGCACGAACAACACGGGACGCACGCAGGCACGTGCACGAAGAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063947
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063819
    reference: chr 17
allele count: 3
allele frequency: 2.107037505267594e-4
allele num: 14238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsp: ENSP00000364011.3:p.Gln951ArgfsTer?
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5282
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4896
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5655
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln951ArgfsTer?
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: AGAACAACACAGGACGCACACAGGCACGTGCACGAACAACACGGGACGCACGCAGGCACGTGCACGAAGAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCAC
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

17-78063951-CAACACAGGACGCACACAGGCACGTGCACGAACAACACGGGACGCACGCAGGCACGTGCACGAAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063951
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063887
    reference: chr 17
allele count: 139
allele frequency: 9.777715250422059e-3
allele num: 14216
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsp: ENSP00000364011.3:p.Gln951ArgfsTer?
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 2.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 9.75e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4547
  bin: 7.5e0
  variant carriers: 3
hgvs: p.Gln951ArgfsTer?
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: CAACACAGGACGCACACAGGCACGTGCACGAACAACACGGGACGCACGCAGGCACGTGCACGAAG
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum

17-78063957-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063957
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063957
    reference: chr 17
allele count: 2978
allele frequency: 2.233388330583471e-1
allele num: 13334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+274A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+274A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+274A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+274A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+274A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2852A>G
  hgvsp: ENSP00000364011.3:p.Gln951Arg
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.5e0
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 9.75e1
  variant carriers: 1808
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 2.5e0
  variant carriers: 137
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 2.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 9.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 3492
  bin: 7.5e0
  variant carriers: 46
hgvs: p.Gln951Arg
num of homozygotes: 445
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

17-78063961-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063961
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063961
    reference: chr 17
allele count: 1
allele frequency: 7.197351374694113e-5
allele num: 13894
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+278C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+278C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2856C>T
  hgvsp: ENST00000374877.3:c.2856C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+278C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+278C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+278C>T
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3971
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp952Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

17-78063964-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063964
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063964
    reference: chr 17
allele count: 2963
allele frequency: 2.226480312593928e-1
allele num: 13308
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+281A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+281A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+281A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2859A>G
  hgvsp: ENST00000374877.3:c.2859A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+281A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+281A>G
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 2.5e0
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 9.75e1
  variant carriers: 1780
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 3.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 7.5e0
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 5607
  bin: 9.75e1
  variant carriers: 2497
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 6
hgvs: p.Ala953Ala
num of homozygotes: 443
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

17-78063966-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063966
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063966
    reference: chr 17
allele count: 2951
allele frequency: 2.222138554216868e-1
allele num: 13280
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+283A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+283A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+283A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2861A>G
  hgvsp: ENSP00000364011.3:p.His954Arg
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+283A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+283A>G
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 2.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 2.5e0
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 9.75e1
  variant carriers: 1757
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.25e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 9.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 5608
  bin: 9.75e1
  variant carriers: 2498
hgvs: p.His954Arg
num of homozygotes: 441
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

17-78063968-AGGCACGTGCACGAACAACACGGGACGCACGCAGGCACGTGCACGAAGAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063968
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063872
    reference: chr 17
allele count: 1
allele frequency: 7.152052639107424e-5
allele num: 13982
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsp: ENSP00000364011.3:p.His964_Thr995del
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His964_Thr995del
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: AGGCACGTGCACGAACAACACGGGACGCACGCAGGCACGTGCACGAAGAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCG
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

17-78063981-AACAACACGGGAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063981
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063969
    reference: chr 17
allele count: 1
allele frequency: 7.195279896387969e-5
allele num: 13898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsp: ENSP00000364011.3:p.Gln960_Thr963del
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3801
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3602
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5162
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln960_Thr963del
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: AACAACACGGGAC
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

17-78063987-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063987
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063987
    reference: chr 17
allele count: 9
allele frequency: 6.489760599942314e-4
allele num: 13868
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+304A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+304A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2882A>G
  hgvsp: ENSP00000364011.3:p.His961Arg
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+304A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+304A>G
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+304A>G
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His961Arg
num of homozygotes: 1
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ

17-78063987-ACGGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063987
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063983
    reference: chr 17
allele count: 1
allele frequency: 7.210845111047014e-5
allele num: 13868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2883_2886delCGGG
  hgvsp: ENSP00000364011.3:p.His961GlnfsTer?
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+305_2369+308delCGGG
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+305_494+308delCGGG
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+305_476+308delCGGG
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+305_3083+308delCGGG
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+305_2832+308delCGGG
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5202
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His961GlnfsTer?
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: ACGGG
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

17-78063988-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063988
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063988
    reference: chr 17
allele count: 1
allele frequency: 7.24112961622013e-5
allele num: 13810
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  hgvsc: ENST00000397545.4:c.2832+305C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  hgvsc: ENST00000574799.1:n.2369+305C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  hgvsc: ENST00000575431.1:n.476+305C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsc: ENST00000374877.3:c.2883C>T
  hgvsp: ENST00000374877.3:c.2883C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  hgvsc: ENST00000573903.1:n.494+305C>T
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  hgvsc: ENST00000572253.1:n.3083+305C>T
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3083
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His961His
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP

17-78063991-GACGCACGCAGGC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78063991
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78063979
    reference: chr 17
allele count: 1
allele frequency: 7.333528894103843e-5
allele num: 13636
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000575431
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000574799
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000380679
  ensembl transcript: ENST00000397545
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141519
  ensembl protein: ENSP00000364011
  ensembl transcript: ENST00000374877
  gene symbol: CCDC40
  hgvsp: ENSP00000364011.3:p.His964_Thr967del
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000573903
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141519
  ensembl transcript: ENST00000572253
  gene symbol: CCDC40
  variant of: http://identifiers.org/hgnc/26090
canonical: false
consequence: inframe deletion
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His964_Thr967del
num of homozygotes: 0
reference allele: GACGCACGCAGGC

GenotypeQuality
all individuals: 605
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9698
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6766
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 9782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

FS
type: SiteQuality
SIO_000300: 1.657e0

MQRankSum
type: SiteQuality
SIO_000300: 2.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.068e1

VQSLOD
type: SiteQuality
SIO_000300: -8.463000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

QD
type: SiteQuality
SIO_000300: 1.603e1

DP
type: SiteQuality
SIO_000300: 1.907378e6

GenotypeQuality
all individuals: 36491
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2276
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9699
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.69e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

DP
type: SiteQuality
SIO_000300: 1.907325e6

VQSLOD
type: SiteQuality
SIO_000300: 4.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.196e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9696
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36561
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2456
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.134e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.277e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

FS
type: SiteQuality
SIO_000300: 2.068e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 1.908049e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-2

QD
type: SiteQuality
SIO_000300: 1.276e1

MQ
type: SiteQuality
SIO_000300: 5.867e1

GenotypeQuality
all individuals: 36603
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2277
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1178
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2456
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.299835008249588e-4
allele num: 66670
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
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: 1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

DP
type: SiteQuality
SIO_000300: 1.908839e6

FS
type: SiteQuality
SIO_000300: 1.866e0

MQRankSum
type: SiteQuality
SIO_000300: -1.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.56e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.224e1

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2459
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2278
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9699
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 4.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

QD
type: SiteQuality
SIO_000300: 1.243e1

FS
type: SiteQuality
SIO_000300: 2.662e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.907884e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

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

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2275
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.302e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 3.189e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

DP
type: SiteQuality
SIO_000300: 1.908135e6

QD
type: SiteQuality
SIO_000300: 1.105e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

GenotypeQuality
all individuals: 9689
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36672
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1178
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.908323e6

MQRankSum
type: SiteQuality
SIO_000300: 8.58e-1

QD
type: SiteQuality
SIO_000300: 1.211e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.02e-1

MQ
type: SiteQuality
SIO_000300: 5.758e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.768e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.51e-1

GenotypeQuality
all individuals: 2457
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36684
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9690
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
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: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
type: SiteQuality
SIO_000300: -6.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-1

MQ
type: SiteQuality
SIO_000300: 5.996e1

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

FS
type: SiteQuality
SIO_000300: 6.919999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.908474e6

QD
type: SiteQuality
SIO_000300: 1.437e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.287e0

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2274
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6746
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2458
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1180
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9691
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 9784
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.212e1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: -3.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 1.90857e6

MQ
type: SiteQuality
SIO_000300: 5.941e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

GenotypeQuality
all individuals: 2458
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2274
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6746
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 47
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.022076860179886e-4
allele num: 9784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.212e1

MQRankSum
type: SiteQuality
SIO_000300: -3.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

DP
type: SiteQuality
SIO_000300: 1.90857e6

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

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2458
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6744
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 9786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.75e-1

QD
type: SiteQuality
SIO_000300: 6.88e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

DP
type: SiteQuality
SIO_000300: 1.908417e6

VQSLOD
type: SiteQuality
SIO_000300: -1.249e0

FS
type: SiteQuality
SIO_000300: 3.312e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.04e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1180
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6744
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2455
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9690
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2275
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.999340072592015e-5
allele num: 66674
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: 1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-2

DP
type: SiteQuality
SIO_000300: 1.908903e6

QD
type: SiteQuality
SIO_000300: 1.03e1

FS
type: SiteQuality
SIO_000300: 1.796e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.074e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36715
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6741
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

FS
type: SiteQuality
SIO_000300: 9.199999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -9.624e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

DP
type: SiteQuality
SIO_000300: 1.908619e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.54e-1

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

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2272
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6740
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.021450459652707e-4
allele num: 9790
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

MQ
type: SiteQuality
SIO_000300: 5.882e1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.185e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.28e0

DP
type: SiteQuality
SIO_000300: 1.908705e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: -2.395e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.215e0

FS
type: SiteQuality
SIO_000300: 0.0e0

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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GenotypeQuality
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GenotypeQuality
all individuals: 1178
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GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

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

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

East Asian
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allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

MQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

FS
type: SiteQuality
SIO_000300: 7.658e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.757e0

MQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

VQSLOD
type: SiteQuality
SIO_000300: 8.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

DP
type: SiteQuality
SIO_000300: 1.909577e6

QD
type: SiteQuality
SIO_000300: 1.108e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.26e-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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.01e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 4.1e-3

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

VQSLOD
type: SiteQuality
SIO_000300: -1.842e0

DP
type: SiteQuality
SIO_000300: 1.909163e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.11e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.62e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.339e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

FS
type: SiteQuality
SIO_000300: 1.716e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e0

DP
type: SiteQuality
SIO_000300: 1.909083e6

QD
type: SiteQuality
SIO_000300: 1.501e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 6725
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.657e0

DP
type: SiteQuality
SIO_000300: 1.909034e6

VQSLOD
type: SiteQuality
SIO_000300: -1.387e-1

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
SIO_000300: 8.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele frequency: 1.020616452337212e-4
allele num: 9798
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

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

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

Latino
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allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.500240038406145e-5
allele num: 66656
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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Other
type: Population
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allele num: 896
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East Asian
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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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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variant carriers: 0

Latino
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num of homozygotes: 0

Other
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66640
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East Asian
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allele frequency: 1.160092807424594e-4
allele num: 8620
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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BaseQRankSum
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FS
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MQ
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ClippingRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

European (Non-Finnish)
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allele frequency: 3.00318337437684e-5
allele num: 66596
num of homozygotes: 0

European (Finnish)
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allele num: 6612
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East Asian
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Other
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South Asian
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Latino
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allele frequency: 8.652015919709292e-5
allele num: 11558
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African
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allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 3.919e0

ClippingRankSum
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MQ
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DP
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SIO_000300: 1.904879e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

VQSLOD
type: SiteQuality
SIO_000300: -2.135e0

QD
type: SiteQuality
SIO_000300: 2.807e1

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.29e-1

GenotypeQuality
all individuals: 455
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9615
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36705
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2426
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6700
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.004e0

FS
type: SiteQuality
SIO_000300: 5.93e-1

DP
type: SiteQuality
SIO_000300: 1.9044e6

QD
type: SiteQuality
SIO_000300: 1.317e1

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6699
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2229
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.74e0

DP
type: SiteQuality
SIO_000300: 1.90322e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.96e-1

FS
type: SiteQuality
SIO_000300: 1.0323e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.626e0

MQRankSum
type: SiteQuality
SIO_000300: -4.134e0

MQ
type: SiteQuality
SIO_000300: 5.59e1

GenotypeQuality
all individuals: 2187
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502313562886846e-5
allele num: 66564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

DP
type: SiteQuality
SIO_000300: 1.911546e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.06e0

FS
type: SiteQuality
SIO_000300: 5.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.364e1

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2187
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6915
bin: 9.75e1
variant carriers: 1156

GenotypeQuality
all individuals: 1125
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 18
allele frequency: 2.724795640326975e-3
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 31
allele frequency: 3.171679967260078e-3
allele num: 9774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

South Asian
type: Population
allele count: 62
allele frequency: 3.755299818291944e-3
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.348214285714286e-3
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 988
allele frequency: 1.484285800132204e-2
allele num: 66564
num of homozygotes: 5

Latino
type: Population
allele count: 59
allele frequency: 5.105572862582208e-3
allele num: 11556
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

DP
type: SiteQuality
SIO_000300: 1.911546e6

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.364e1

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

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

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

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502629601803156e-5
allele num: 66550
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730702665282105e-4
allele num: 11556
num of homozygotes: 0

African
type: Population
allele count: 83
allele frequency: 8.491917331696337e-3
allele num: 9774
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.53e-1

DP
type: SiteQuality
SIO_000300: 1.866025e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 6.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

QD
type: SiteQuality
SIO_000300: 1.396e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

GenotypeQuality
all individuals: 5753
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 90
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9708
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2417
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 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: 894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504166541319455e-5
allele num: 66482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

QD
type: SiteQuality
SIO_000300: 1.06e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 1.0087e1

DP
type: SiteQuality
SIO_000300: 1.858838e6

VQSLOD
type: SiteQuality
SIO_000300: -4.96e-2

GenotypeQuality
all individuals: 367
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2413
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2183
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37250
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5745
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 1
allele frequency: 1.023960679909891e-4
allele num: 9766
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.008423586040914e-5
allele num: 66480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.76e-1

FS
type: SiteQuality
SIO_000300: 5.629999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 1.858075e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.787e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.47e-1

QD
type: SiteQuality
SIO_000300: 1.394e1

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37334
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9705
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5740
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66486
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -6.511e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.347e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 5.574e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.54e0

DP
type: SiteQuality
SIO_000300: 1.857691e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9689
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2390
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37182
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 65
allele frequency: 3.940349175557711e-3
allele num: 16496
num of homozygotes: 1

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: 9764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
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: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.858792e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.12e0

QD
type: SiteQuality
SIO_000300: 1.426e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.55e-2

GenotypeQuality
all individuals: 37240
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.023960679909891e-4
allele num: 9766
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

FS
type: SiteQuality
SIO_000300: 1.267e0

MQ
type: SiteQuality
SIO_000300: 5.836e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

QD
type: SiteQuality
SIO_000300: 2.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

DP
type: SiteQuality
SIO_000300: 1.85274e6

VQSLOD
type: SiteQuality
SIO_000300: -6.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e0

GenotypeQuality
all individuals: 112
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2368
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 3.25e1
variant carriers: 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: 9766
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66420
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.52e0

FS
type: SiteQuality
SIO_000300: 1.267e0

DP
type: SiteQuality
SIO_000300: 1.85274e6

VQSLOD
type: SiteQuality
SIO_000300: -6.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.836e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36751
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2115
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1096
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
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: 13
allele frequency: 1.334428248819544e-3
allele num: 9742
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21300339640951e-4
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.015226895823911e-5
allele num: 66330
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

FS
type: SiteQuality
SIO_000300: 6.15e-1

QD
type: SiteQuality
SIO_000300: 1.437e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.21e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

DP
type: SiteQuality
SIO_000300: 1.848151e6

GenotypeQuality
all individuals: 9475
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2321
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2115
bin: 7.75e1
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: 8598
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66330
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.026483268322726e-4
allele num: 9742
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.848151e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

FS
type: SiteQuality
SIO_000300: 6.15e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

QD
type: SiteQuality
SIO_000300: 1.437e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.21e-2

GenotypeQuality
all individuals: 164
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2290
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5667
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 846
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.020418025854778e-5
allele num: 66216
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: 16478
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 1.253e1

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

DP
type: SiteQuality
SIO_000300: 1.838037e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.965e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.48e-1

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5657
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 395
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37006
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511487303506651e-5
allele num: 66160
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.28e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

VQSLOD
type: SiteQuality
SIO_000300: 6.909999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.835364e6

FS
type: SiteQuality
SIO_000300: 9.47e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e0

GenotypeQuality
all individuals: 5657
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 133
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37006
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2261
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66160
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.698677800974252e-5
allele num: 11496
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: 16474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e0

FS
type: SiteQuality
SIO_000300: 9.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

QD
type: SiteQuality
SIO_000300: 1.28e1

VQSLOD
type: SiteQuality
SIO_000300: 6.909999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 1.835364e6

GenotypeQuality
all individuals: 146
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36906
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2246
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9314
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
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: 890
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512264464809606e-5
allele num: 66126
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.689e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.54e-1

DP
type: SiteQuality
SIO_000300: 1.832344e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 1.91e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.469e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.042e0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9139
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36713
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1950
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.102217907096695e-5
allele num: 65918
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.413e1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

FS
type: SiteQuality
SIO_000300: 6.860000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.820953e6

GenotypeQuality
all individuals: 337
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9139
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5639
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 189
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65918
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
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: 892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.721437292865864e-5
allele num: 11466
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.820953e6

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.860000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.413e1

GenotypeQuality
all individuals: 1014
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5631
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 373
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.036283588887202e-5
allele num: 65870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.06e-1

DP
type: SiteQuality
SIO_000300: 1.818012e6

QD
type: SiteQuality
SIO_000300: 1.14e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.174e0

MQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

FS
type: SiteQuality
SIO_000300: 1.055e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 214
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2141
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5630
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 137
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.597860442499392e-5
allele num: 65808
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.814664e6

QD
type: SiteQuality
SIO_000300: 1.068e1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.076e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQ
type: SiteQuality
SIO_000300: 5.406e1

FS
type: SiteQuality
SIO_000300: 1.2586e1

MQRankSum
type: SiteQuality
SIO_000300: -2.556e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.761e0

GenotypeQuality
all individuals: 489
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33624
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5611
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 970
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8003
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54397233201581e-5
allele num: 64768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.759908e6

MQRankSum
type: SiteQuality
SIO_000300: -1.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.78e-1

FS
type: SiteQuality
SIO_000300: 3.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-2

QD
type: SiteQuality
SIO_000300: 1.087e1

GenotypeQuality
all individuals: 3650
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8003
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1873
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.08794466403162e-5
allele num: 64768
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.09e-1

FS
type: SiteQuality
SIO_000300: 3.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.78e-1

QD
type: SiteQuality
SIO_000300: 1.087e1

DP
type: SiteQuality
SIO_000300: 1.759908e6

GenotypeQuality
all individuals: 262
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34270
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3687
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.832361773538245e-5
allele num: 11322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64762
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.759574e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

MQRankSum
type: SiteQuality
SIO_000300: -2.29e-1

QD
type: SiteQuality
SIO_000300: 8.83e0

FS
type: SiteQuality
SIO_000300: 1.508e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.545e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.44e-1

GenotypeQuality
all individuals: 486
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3714
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7972
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5601
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 8.833922261484099e-5
allele num: 11320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64710
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.758888e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

QD
type: SiteQuality
SIO_000300: 1.479e1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

FS
type: SiteQuality
SIO_000300: 5.544e0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

GenotypeQuality
all individuals: 401
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1996
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1629
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2411
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29053
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.07342206955775e-4
allele num: 9316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16146
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63564
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.197e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

FS
type: SiteQuality
SIO_000300: 5.696e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.343e0

DP
type: SiteQuality
SIO_000300: 1.647264e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

GenotypeQuality
all individuals: 27963
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2177
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7370
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5593
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 326
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6502
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11048
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.722084367245658e-4
allele num: 16120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.438e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 8.246e0

DP
type: SiteQuality
SIO_000300: 1.628279e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

GenotypeQuality
all individuals: 89
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2763
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3614
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10982
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.455795677799607e-4
allele num: 8144
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.866832607342875e-4
allele num: 16070
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.591140529531568e-5
allele num: 62848
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.567326e6

FS
type: SiteQuality
SIO_000300: 6.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

QD
type: SiteQuality
SIO_000300: 1.179e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.439e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.47e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5268
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8608
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5585
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 538
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.086248099065827e-4
allele num: 9206
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.11410864017499e-5
allele num: 10972
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.202e0

QD
type: SiteQuality
SIO_000300: 1.145e1

DP
type: SiteQuality
SIO_000300: 1.563131e6

GenotypeQuality
all individuals: 2064
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5268
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1233
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2765
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25268
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62764
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.245485116452858e-4
allele num: 16058
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10972
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

FS
type: SiteQuality
SIO_000300: 2.202e0

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.145e1

DP
type: SiteQuality
SIO_000300: 1.563131e6

GenotypeQuality
all individuals: 1197
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5715
bin: 9.75e1
variant carriers: 165

GenotypeQuality
all individuals: 774
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5216
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 5.25e1
variant carriers: 1

Latino
type: Population
allele count: 10
allele frequency: 9.125752874612155e-4
allele num: 10958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62790
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.162790697674419e-3
allele num: 860
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.871024073843083e-4
allele num: 16034
num of homozygotes: 1

African
type: Population
allele count: 156
allele frequency: 1.696020874103066e-2
allele num: 9198
num of homozygotes: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8142
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.05e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.453e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

DP
type: SiteQuality
SIO_000300: 1.559873e6

QD
type: SiteQuality
SIO_000300: 1.394e1

GenotypeQuality
all individuals: 4271
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 9.25e1
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GenotypeQuality
all individuals: 1080
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10868
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16012
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9094
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.209860692045965e-5
allele num: 62308
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.98e-2

DP
type: SiteQuality
SIO_000300: 1.49405e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.398e0

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.729e0

QD
type: SiteQuality
SIO_000300: 8.74e0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1596
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.42600679281902e-4
allele num: 4122
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7632
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.58738e5

MQ
type: SiteQuality
SIO_000300: 5.604e1

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.27e-2

FS
type: SiteQuality
SIO_000300: 2.072e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 101
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GenotypeQuality
all individuals: 60
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.310272536687631e-4
allele num: 7632
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4096
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1596
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.199999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

QD
type: SiteQuality
SIO_000300: 1.12e1

FS
type: SiteQuality
SIO_000300: 1.1112e1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -5.125e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.476e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 5.356e1

DP
type: SiteQuality
SIO_000300: 5.56646e5

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 102
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GenotypeQuality
all individuals: 141
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4072
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.310959622443629e-4
allele num: 7628
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.428e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

FS
type: SiteQuality
SIO_000300: 6.117e0

DP
type: SiteQuality
SIO_000300: 5.52859e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.97e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.11e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

GenotypeQuality
all individuals: 100
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4034
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.311303435615001e-4
allele num: 7626
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.07e0

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

QD
type: SiteQuality
SIO_000300: 1.249e1

DP
type: SiteQuality
SIO_000300: 5.49352e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.68e-2

MQ
type: SiteQuality
SIO_000300: 5.237e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.448e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.076e0

VQSLOD
type: SiteQuality
SIO_000300: -1.771e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
all individuals: 98
bin: 7.25e1
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
all individuals: 3
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GenotypeQuality
all individuals: 688
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1592
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.937007874015748e-4
allele num: 7620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3944
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.341e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.068e0

FS
type: SiteQuality
SIO_000300: 4.483e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.39e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e0

DP
type: SiteQuality
SIO_000300: 5.37539e5

MQ
type: SiteQuality
SIO_000300: 5.717e1

QD
type: SiteQuality
SIO_000300: 1.161e1

GenotypeQuality
all individuals: 193
bin: 2.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 239
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.566735112936345e-4
allele num: 3896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.259445843828715e-3
allele num: 1588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e0

QD
type: SiteQuality
SIO_000300: 1.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.028e0

DP
type: SiteQuality
SIO_000300: 5.32975e5

MQ
type: SiteQuality
SIO_000300: 5.64e1

FS
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.19e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-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
all individuals: 60
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GenotypeQuality
all individuals: 5654
bin: 9.75e1
variant carriers: 139

Latino
type: Population
allele count: 2
allele frequency: 1.063829787234043e-2
allele num: 188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 3.184713375796179e-3
allele num: 1570
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 1.5e-2
allele num: 200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 8.726899383983572e-3
allele num: 3896
num of homozygotes: 0

South Asian
type: Population
allele count: 95
allele frequency: 1.248685594111462e-2
allele num: 7608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.214e0

VQSLOD
type: SiteQuality
SIO_000300: -2.874e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e0

MQ
type: SiteQuality
SIO_000300: 5.792e1

MQRankSum
type: SiteQuality
SIO_000300: -5.722e0

QD
type: SiteQuality
SIO_000300: 1.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.05e-2

DP
type: SiteQuality
SIO_000300: 5.70316e5

FS
type: SiteQuality
SIO_000300: 2.3315e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.14e0

GenotypeQuality
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variant carriers: 2502

GenotypeQuality
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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: 7
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GenotypeQuality
all individuals: 11
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variant carriers: 11

African
type: Population
allele count: 41
allele frequency: 7.26950354609929e-2
allele num: 564
num of homozygotes: 3

Latino
type: Population
allele count: 34
allele frequency: 1.954022988505747e-1
allele num: 174
num of homozygotes: 3

East Asian
type: Population
allele count: 18
allele frequency: 9.473684210526316e-2
allele num: 190
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 1061
allele frequency: 2.891008174386921e-1
allele num: 3670
num of homozygotes: 173

South Asian
type: Population
allele count: 1479
allele frequency: 2.100255609201931e-1
allele num: 7042
num of homozygotes: 229

Other
type: Population
allele count: 33
allele frequency: 1.896551724137931e-1
allele num: 174
num of homozygotes: 4

European (Finnish)
type: Population
allele count: 312
allele frequency: 2.052631578947368e-1
allele num: 1520
num of homozygotes: 32

BaseQRankSum
type: SiteQuality
SIO_000300: -2.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.95e-2

MQ
type: SiteQuality
SIO_000300: 5.334e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 4.397e0

MQRankSum
type: SiteQuality
SIO_000300: -1.637e0

VQSLOD
type: SiteQuality
SIO_000300: 5.36e-1

QD
type: SiteQuality
SIO_000300: 1.873e1

DP
type: SiteQuality
SIO_000300: 7.97574e5

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 101
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GenotypeQuality
all individuals: 108
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GenotypeQuality
all individuals: 228
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3816
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 1.34517083669626e-4
allele num: 7434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1514
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 1.994e1

VQSLOD
type: SiteQuality
SIO_000300: -5.369e0

MQRankSum
type: SiteQuality
SIO_000300: 5.37e0

DP
type: SiteQuality
SIO_000300: 7.74759e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.85e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.512e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-1

MQ
type: SiteQuality
SIO_000300: 5.734e1

QD
type: SiteQuality
SIO_000300: 1.249e1

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
all individuals: 14
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GenotypeQuality
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GenotypeQuality
all individuals: 173
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GenotypeQuality
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GenotypeQuality
all individuals: 32
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GenotypeQuality
all individuals: 81
bin: 7.75e1
variant carriers: 11

East Asian
type: Population
allele count: 18
allele frequency: 9.473684210526316e-2
allele num: 190
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 301
allele frequency: 2.014725568942436e-1
allele num: 1494
num of homozygotes: 30

African
type: Population
allele count: 40
allele frequency: 7.092198581560284e-2
allele num: 564
num of homozygotes: 3

Latino
type: Population
allele count: 34
allele frequency: 1.954022988505747e-1
allele num: 174
num of homozygotes: 3

Other
type: Population
allele count: 33
allele frequency: 1.918604651162791e-1
allele num: 172
num of homozygotes: 4

South Asian
type: Population
allele count: 1479
allele frequency: 2.098467650397276e-1
allele num: 7048
num of homozygotes: 229

European (Non-Finnish)
type: Population
allele count: 1058
allele frequency: 2.885979268957992e-1
allele num: 3666
num of homozygotes: 173

MQRankSum
type: SiteQuality
SIO_000300: -1.832e0

FS
type: SiteQuality
SIO_000300: 5.713e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.12e-1

QD
type: SiteQuality
SIO_000300: 1.891e1

DP
type: SiteQuality
SIO_000300: 7.96926e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.72e-2

MQ
type: SiteQuality
SIO_000300: 5.313e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

GenotypeQuality
all individuals: 3172
bin: 7.5e0
variant carriers: 30

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 82
bin: 7.75e1
variant carriers: 11

GenotypeQuality
all individuals: 872
bin: 2.5e0
variant carriers: 12

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 557
bin: 6.25e1
variant carriers: 6

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 12

South Asian
type: Population
allele count: 1479
allele frequency: 2.098467650397276e-1
allele num: 7048
num of homozygotes: 229

Latino
type: Population
allele count: 34
allele frequency: 1.954022988505747e-1
allele num: 174
num of homozygotes: 3

Other
type: Population
allele count: 32
allele frequency: 1.882352941176471e-1
allele num: 170
num of homozygotes: 4

European (Non-Finnish)
type: Population
allele count: 1058
allele frequency: 2.890710382513661e-1
allele num: 3660
num of homozygotes: 174

East Asian
type: Population
allele count: 18
allele frequency: 9.473684210526316e-2
allele num: 190
num of homozygotes: 1

African
type: Population
allele count: 42
allele frequency: 7.420494699646643e-2
allele num: 566
num of homozygotes: 4

European (Finnish)
type: Population
allele count: 288
allele frequency: 1.956521739130435e-1
allele num: 1472
num of homozygotes: 26

DP
type: SiteQuality
SIO_000300: 7.94211e5

FS
type: SiteQuality
SIO_000300: 5.67e0

MQ
type: SiteQuality
SIO_000300: 5.312e1

VQSLOD
type: SiteQuality
SIO_000300: 6.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.79e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 1.9e1

MQRankSum
type: SiteQuality
SIO_000300: -1.964e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.5e-1

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5212
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 81
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4051
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.748251748251748e-3
allele num: 572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1494
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7530
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.79e-2

MQ
type: SiteQuality
SIO_000300: 5.812e1

FS
type: SiteQuality
SIO_000300: 1.9535e1

DP
type: SiteQuality
SIO_000300: 6.57471e5

MQRankSum
type: SiteQuality
SIO_000300: -9.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.5e0

VQSLOD
type: SiteQuality
SIO_000300: -1.719e0

GenotypeQuality
all individuals: 785
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.33155792276964e-4
allele num: 7510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3814
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.786e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.398e0

DP
type: SiteQuality
SIO_000300: 6.51913e5

FS
type: SiteQuality
SIO_000300: 2.5608e1

MQ
type: SiteQuality
SIO_000300: 5.301e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.866e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-2

GenotypeQuality
all individuals: 275
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3250
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5202
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 82
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 1.197126895450918e-3
allele num: 7518
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3810
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.627e1

VQSLOD
type: SiteQuality
SIO_000300: -1.871e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.59e-2

DP
type: SiteQuality
SIO_000300: 6.49966e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.34e-1

FS
type: SiteQuality
SIO_000300: 2.0316e1

MQ
type: SiteQuality
SIO_000300: 5.754e1

GenotypeQuality
all individuals: 3250
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3810
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.330140994945464e-4
allele num: 7518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.871e0

MQRankSum
type: SiteQuality
SIO_000300: 6.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.59e-2

MQ
type: SiteQuality
SIO_000300: 5.754e1

DP
type: SiteQuality
SIO_000300: 6.49966e5

FS
type: SiteQuality
SIO_000300: 2.0316e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

QD
type: SiteQuality
SIO_000300: 1.627e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.02e-1

GenotypeQuality
all individuals: 63
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5132
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.642706131078224e-4
allele num: 3784
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.13e-2

FS
type: SiteQuality
SIO_000300: 2.5559e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.589e1

VQSLOD
type: SiteQuality
SIO_000300: -3.548e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 6.57345e5