3-56597950-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56597950
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56597950
    reference: chr 3
allele count: 8
allele frequency: 6.954828389609486e-5
allele num: 115028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.341C>T
  hgvsp: ENSP00000401451.1:p.Ala114Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.425C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.239C>T
  hgvsp: ENSP00000420192.1:p.Ala80Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.395C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.341C>T
  hgvsp: ENSP00000378167.3:p.Ala114Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.381C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-3028C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.356C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*229C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*309C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.239C>T
  hgvsp: ENSP00000326050.7:p.Ala80Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.407C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.341C>T
  hgvsp: ENSP00000404320.2:p.Ala114Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.341C>T
  hgvsp: ENSP00000343840.6:p.Ala114Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.341C>T
  hgvsp: ENSP00000444919.1:p.Ala114Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.555C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*346C>T
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42755
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala114Val
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: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

3-56597951-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56597951
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56597951
    reference: chr 3
allele count: 3
allele frequency: 2.597447574849781e-5
allele num: 115498
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.556A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*310A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.342A>G
  hgvsp: ENST00000422222.1:c.342A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.342A>G
  hgvsp: ENST00000436465.2:c.342A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.408A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.342A>G
  hgvsp: ENST00000394672.3:c.342A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-3027A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.342A>G
  hgvsp: ENST00000538560.1:c.342A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.240A>G
  hgvsp: ENST00000471681.1:c.240A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.240A>G
  hgvsp: ENST00000326595.7:c.240A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.342A>G
  hgvsp: ENST00000341455.6:c.342A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.426A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.382A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*347A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.357A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*230A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.396A>G
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala114Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

3-56597954-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56597954
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56597954
    reference: chr 3
allele count: 91376
allele frequency: 7.570505385252693e-1
allele num: 120700
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.559C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.345C>T
  hgvsp: ENST00000422222.1:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.345C>T
  hgvsp: ENST00000394672.3:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.360C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*350C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.243C>T
  hgvsp: ENST00000471681.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.399C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.243C>T
  hgvsp: ENST00000326595.7:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-3024C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.345C>T
  hgvsp: ENST00000341455.6:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.345C>T
  hgvsp: ENST00000538560.1:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*313C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.429C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.411C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.345C>T
  hgvsp: ENST00000436465.2:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*233C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.385C>T
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.25e1
  variant carriers: 577
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 5.25e1
  variant carriers: 3128
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.25e1
  variant carriers: 765
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 4.75e1
  variant carriers: 4692
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 86
genotype quality: GenotypeQuality
hgvs: p.Thr115Thr
num of homozygotes: 35489
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

3-56597956-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56597956
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56597956
    reference: chr 3
allele count: 1
allele frequency: 8.275953389830508e-6
allele num: 120832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.347C>T
  hgvsp: ENSP00000404320.2:p.Pro116Leu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.347C>T
  hgvsp: ENSP00000444919.1:p.Pro116Leu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.413C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.245C>T
  hgvsp: ENSP00000420192.1:p.Pro82Leu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.347C>T
  hgvsp: ENSP00000401451.1:p.Pro116Leu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*235C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.431C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.387C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.347C>T
  hgvsp: ENSP00000343840.6:p.Pro116Leu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.561C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-3022C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*352C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.347C>T
  hgvsp: ENSP00000378167.3:p.Pro116Leu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.362C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.401C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*315C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.245C>T
  hgvsp: ENSP00000326050.7:p.Pro82Leu
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13211
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro116Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

3-56597961-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56597961
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56597961
    reference: chr 3
allele count: 21
allele frequency: 1.737375074458932e-4
allele num: 120872
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*357A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.352A>G
  hgvsp: ENSP00000343840.6:p.Met118Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*320A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.406A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.352A>G
  hgvsp: ENSP00000401451.1:p.Met118Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.352A>G
  hgvsp: ENSP00000378167.3:p.Met118Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.352A>G
  hgvsp: ENSP00000444919.1:p.Met118Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.367A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*240A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.566A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.418A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.250A>G
  hgvsp: ENSP00000326050.7:p.Met84Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.352A>G
  hgvsp: ENSP00000404320.2:p.Met118Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.392A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-3017A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.250A>G
  hgvsp: ENSP00000420192.1:p.Met84Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.436A>G
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met118Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ

3-56597968-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56597968
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56597968
    reference: chr 3
allele count: 18
allele frequency: 1.489326493463512e-4
allele num: 120860
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*327A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.374A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.359A>G
  hgvsp: ENSP00000444919.1:p.Lys120Arg
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.359A>G
  hgvsp: ENSP00000378167.3:p.Lys120Arg
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*364A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.257A>G
  hgvsp: ENSP00000420192.1:p.Lys86Arg
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.399A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-3010A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.443A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.573A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*247A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.359A>G
  hgvsp: ENSP00000401451.1:p.Lys120Arg
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.257A>G
  hgvsp: ENSP00000326050.7:p.Lys86Arg
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.425A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.359A>G
  hgvsp: ENSP00000404320.2:p.Lys120Arg
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.413A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.359A>G
  hgvsp: ENSP00000343840.6:p.Lys120Arg
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys120Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-56597970-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56597970
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56597970
    reference: chr 3
allele count: 4
allele frequency: 3.309997848501398e-5
allele num: 120846
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.361A>G
  hgvsp: ENSP00000444919.1:p.Thr121Ala
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.445A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.361A>G
  hgvsp: ENSP00000343840.6:p.Thr121Ala
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.259A>G
  hgvsp: ENSP00000420192.1:p.Thr87Ala
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.361A>G
  hgvsp: ENSP00000404320.2:p.Thr121Ala
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.259A>G
  hgvsp: ENSP00000326050.7:p.Thr87Ala
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.427A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.361A>G
  hgvsp: ENSP00000378167.3:p.Thr121Ala
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.376A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*249A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.415A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*329A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.361A>G
  hgvsp: ENSP00000401451.1:p.Thr121Ala
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*366A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.401A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.575A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-3008A>G
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr121Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/3-56597975-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56597975
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56597975
    reference: chr 3
allele count: 3
allele frequency: 2.48245730173441e-5
allele num: 120848
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*254A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.366A>C
  hgvsp: ENSP00000444919.1:p.Arg122Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*334A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.366A>C
  hgvsp: ENSP00000343840.6:p.Arg122Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.450A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.264A>C
  hgvsp: ENSP00000420192.1:p.Arg88Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.406A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.366A>C
  hgvsp: ENSP00000378167.3:p.Arg122Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.264A>C
  hgvsp: ENSP00000326050.7:p.Arg88Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.432A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.366A>C
  hgvsp: ENSP00000401451.1:p.Arg122Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*371A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-3003A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.366A>C
  hgvsp: ENSP00000404320.2:p.Arg122Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.420A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.381A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.580A>C
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27169
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg122Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-56597976-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56597976
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56597976
    reference: chr 3
allele count: 27
allele frequency: 2.234174596607365e-4
allele num: 120850
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*372A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.367A>G
  hgvsp: ENSP00000404320.2:p.Asn123Asp
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.367A>G
  hgvsp: ENSP00000343840.6:p.Asn123Asp
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*335A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-3002A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.367A>G
  hgvsp: ENSP00000401451.1:p.Asn123Asp
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.421A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.367A>G
  hgvsp: ENSP00000378167.3:p.Asn123Asp
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.367A>G
  hgvsp: ENSP00000444919.1:p.Asn123Asp
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.265A>G
  hgvsp: ENSP00000326050.7:p.Asn89Asp
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.581A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.265A>G
  hgvsp: ENSP00000420192.1:p.Asn89Asp
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.382A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*255A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.433A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.451A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.407A>G
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27192
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Asn123Asp
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

3-56597977-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56597977
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56597977
    reference: chr 3
allele count: 2
allele frequency: 1.654861984510492e-5
allele num: 120856
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.422A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.368A>G
  hgvsp: ENSP00000378167.3:p.Asn123Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.368A>G
  hgvsp: ENSP00000404320.2:p.Asn123Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.266A>G
  hgvsp: ENSP00000420192.1:p.Asn89Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*336A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*373A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*256A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.368A>G
  hgvsp: ENSP00000444919.1:p.Asn123Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.266A>G
  hgvsp: ENSP00000326050.7:p.Asn89Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.408A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.383A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.368A>G
  hgvsp: ENSP00000401451.1:p.Asn123Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.368A>G
  hgvsp: ENSP00000343840.6:p.Asn123Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-3001A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.434A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.452A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.582A>G
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn123Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

3-56597978-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56597978
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56597978
    reference: chr 3
allele count: 2
allele frequency: 1.654944145635085e-5
allele num: 120850
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*374C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.453C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.267C>T
  hgvsp: ENST00000471681.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.369C>T
  hgvsp: ENST00000538560.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.267C>T
  hgvsp: ENST00000326595.7:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.369C>T
  hgvsp: ENST00000422222.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.409C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*337C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.369C>T
  hgvsp: ENST00000341455.6:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.384C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*257C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.369C>T
  hgvsp: ENST00000436465.2:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.583C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.423C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-3000C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.369C>T
  hgvsp: ENST00000394672.3:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.435C>T
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13532
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn123Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

3-56597981-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56597981
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56597981
    reference: chr 3
allele count: 3
allele frequency: 2.482950407203867e-5
allele num: 120824
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.372C>T
  hgvsp: ENST00000394672.3:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.438C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.372C>T
  hgvsp: ENST00000436465.2:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.372C>T
  hgvsp: ENST00000341455.6:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*260C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.372C>T
  hgvsp: ENST00000422222.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.412C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.426C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.270C>T
  hgvsp: ENST00000471681.1:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*340C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2997C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.456C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.372C>T
  hgvsp: ENST00000538560.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.270C>T
  hgvsp: ENST00000326595.7:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.387C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*377C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.586C>T
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr124Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

3-56597982-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56597982
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56597982
    reference: chr 3
allele count: 4
allele frequency: 3.310326563715511e-5
allele num: 120834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.439G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.373G>A
  hgvsp: ENSP00000343840.6:p.Val125Ile
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.271G>A
  hgvsp: ENSP00000326050.7:p.Val91Ile
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.373G>A
  hgvsp: ENSP00000404320.2:p.Val125Ile
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.587G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.271G>A
  hgvsp: ENSP00000420192.1:p.Val91Ile
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*378G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.427G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.373G>A
  hgvsp: ENSP00000401451.1:p.Val125Ile
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.373G>A
  hgvsp: ENSP00000378167.3:p.Val125Ile
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.373G>A
  hgvsp: ENSP00000444919.1:p.Val125Ile
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.413G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*261G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.388G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.457G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*341G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2996G>A
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27339
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13513
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val125Ile
num of homozygotes: 1
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/3-56597986-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56597986
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56597986
    reference: chr 3
allele count: 4
allele frequency: 3.309997848501398e-5
allele num: 120846
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.377A>C
  hgvsp: ENSP00000401451.1:p.Asn126Thr
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2992A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.377A>C
  hgvsp: ENSP00000378167.3:p.Asn126Thr
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*345A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.377A>C
  hgvsp: ENSP00000444919.1:p.Asn126Thr
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*382A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.275A>C
  hgvsp: ENSP00000326050.7:p.Asn92Thr
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.377A>C
  hgvsp: ENSP00000404320.2:p.Asn126Thr
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.275A>C
  hgvsp: ENSP00000420192.1:p.Asn92Thr
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.417A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.392A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.443A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.461A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*265A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.431A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.377A>C
  hgvsp: ENSP00000343840.6:p.Asn126Thr
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.591A>C
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27393
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn126Thr
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

3-56597986-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56597986
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56597986
    reference: chr 3
allele count: 1
allele frequency: 8.274994621253496e-6
allele num: 120846
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*265A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.377A>G
  hgvsp: ENSP00000404320.2:p.Asn126Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.377A>G
  hgvsp: ENSP00000401451.1:p.Asn126Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.275A>G
  hgvsp: ENSP00000420192.1:p.Asn92Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2992A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.591A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.275A>G
  hgvsp: ENSP00000326050.7:p.Asn92Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*382A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.377A>G
  hgvsp: ENSP00000378167.3:p.Asn126Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.377A>G
  hgvsp: ENSP00000444919.1:p.Asn126Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*345A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.377A>G
  hgvsp: ENSP00000343840.6:p.Asn126Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.443A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.417A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.392A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.461A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.431A>G
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn126Ser
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

3-56597989-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56597989
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56597989
    reference: chr 3
allele count: 3
allele frequency: 2.482827112472068e-5
allele num: 120830
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.380C>T
  hgvsp: ENSP00000343840.6:p.Thr127Ile
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*268C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.380C>T
  hgvsp: ENSP00000378167.3:p.Thr127Ile
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.434C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.278C>T
  hgvsp: ENSP00000326050.7:p.Thr93Ile
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.420C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.464C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.278C>T
  hgvsp: ENSP00000420192.1:p.Thr93Ile
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2989C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*348C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.380C>T
  hgvsp: ENSP00000444919.1:p.Thr127Ile
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.380C>T
  hgvsp: ENSP00000404320.2:p.Thr127Ile
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.380C>T
  hgvsp: ENSP00000401451.1:p.Thr127Ile
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.446C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.594C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.395C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*385C>T
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr127Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-56597990-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56597990
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56597990
    reference: chr 3
allele count: 2
allele frequency: 1.655053706492776e-5
allele num: 120842
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.279A>G
  hgvsp: ENST00000471681.1:c.279A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.595A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2988A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*386A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.381A>G
  hgvsp: ENST00000394672.3:c.381A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.279A>G
  hgvsp: ENST00000326595.7:c.279A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.381A>G
  hgvsp: ENST00000436465.2:c.381A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.421A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.381A>G
  hgvsp: ENST00000422222.1:c.381A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.381A>G
  hgvsp: ENST00000538560.1:c.381A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*269A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*349A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.435A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.465A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.447A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.396A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.381A>G
  hgvsp: ENST00000341455.6:c.381A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr127Thr
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-56598006-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598006
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598006
    reference: chr 3
allele count: 2
allele frequency: 1.656589083077942e-5
allele num: 120730
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.451C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.397C>G
  hgvsp: ENSP00000401451.1:p.Gln133Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*365C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.397C>G
  hgvsp: ENSP00000444919.1:p.Gln133Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2972C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.397C>G
  hgvsp: ENSP00000378167.3:p.Gln133Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*402C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.295C>G
  hgvsp: ENSP00000326050.7:p.Gln99Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.412C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.611C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.437C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.397C>G
  hgvsp: ENSP00000404320.2:p.Gln133Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.481C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*285C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.397C>G
  hgvsp: ENSP00000343840.6:p.Gln133Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.295C>G
  hgvsp: ENSP00000420192.1:p.Gln99Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.463C>G
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln133Glu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

3-56598018-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598018
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598018
    reference: chr 3
allele count: 2
allele frequency: 1.656451880072884e-5
allele num: 120740
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.307A>G
  hgvsp: ENSP00000326050.7:p.Lys103Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.475A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.409A>G
  hgvsp: ENSP00000343840.6:p.Lys137Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.307A>G
  hgvsp: ENSP00000420192.1:p.Lys103Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.409A>G
  hgvsp: ENSP00000378167.3:p.Lys137Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.409A>G
  hgvsp: ENSP00000444919.1:p.Lys137Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.493A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.424A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.409A>G
  hgvsp: ENSP00000404320.2:p.Lys137Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2960A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*377A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.409A>G
  hgvsp: ENSP00000401451.1:p.Lys137Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.463A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.623A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.449A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*297A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*414A>G
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys137Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP

3-56598019-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598019
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598019
    reference: chr 3
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.464A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*298A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*378A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.410A>G
  hgvsp: ENSP00000343840.6:p.Lys137Arg
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.410A>G
  hgvsp: ENSP00000378167.3:p.Lys137Arg
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.410A>G
  hgvsp: ENSP00000404320.2:p.Lys137Arg
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.308A>G
  hgvsp: ENSP00000420192.1:p.Lys103Arg
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.410A>G
  hgvsp: ENSP00000401451.1:p.Lys137Arg
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2959A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.410A>G
  hgvsp: ENSP00000444919.1:p.Lys137Arg
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*415A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.308A>G
  hgvsp: ENSP00000326050.7:p.Lys103Arg
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.450A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.624A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.425A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.476A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.494A>G
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys137Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

3-56598022-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598022
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598022
    reference: chr 3
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.627A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.311A>G
  hgvsp: ENSP00000326050.7:p.Lys104Arg
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2956A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.428A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.413A>G
  hgvsp: ENSP00000404320.2:p.Lys138Arg
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.467A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.413A>G
  hgvsp: ENSP00000444919.1:p.Lys138Arg
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*301A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.413A>G
  hgvsp: ENSP00000401451.1:p.Lys138Arg
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.413A>G
  hgvsp: ENSP00000378167.3:p.Lys138Arg
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.479A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*381A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*418A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.413A>G
  hgvsp: ENSP00000343840.6:p.Lys138Arg
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.497A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.311A>G
  hgvsp: ENSP00000420192.1:p.Lys104Arg
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.453A>G
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys138Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-56598024-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598024
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598024
    reference: chr 3
allele count: 1
allele frequency: 8.281985026171072e-6
allele num: 120744
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*383C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*420C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.415C>G
  hgvsp: ENSP00000378167.3:p.His139Asp
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2954C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.430C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.313C>G
  hgvsp: ENSP00000326050.7:p.His105Asp
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.415C>G
  hgvsp: ENSP00000444919.1:p.His139Asp
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.415C>G
  hgvsp: ENSP00000401451.1:p.His139Asp
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.629C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.313C>G
  hgvsp: ENSP00000420192.1:p.His105Asp
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.455C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.415C>G
  hgvsp: ENSP00000343840.6:p.His139Asp
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.499C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.415C>G
  hgvsp: ENSP00000404320.2:p.His139Asp
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*303C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.481C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.469C>G
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13282
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His139Asp
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

3-56598027-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598027
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598027
    reference: chr 3
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*306A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.484A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.418A>G
  hgvsp: ENSP00000343840.6:p.Ile140Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.472A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.316A>G
  hgvsp: ENSP00000420192.1:p.Ile106Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.458A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*386A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.632A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2951A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.418A>G
  hgvsp: ENSP00000444919.1:p.Ile140Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.418A>G
  hgvsp: ENSP00000378167.3:p.Ile140Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.418A>G
  hgvsp: ENSP00000404320.2:p.Ile140Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.418A>G
  hgvsp: ENSP00000401451.1:p.Ile140Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.433A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.502A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.316A>G
  hgvsp: ENSP00000326050.7:p.Ile106Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*423A>G
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile140Val
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-56598034-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598034
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598034
    reference: chr 3
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.440C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*393C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.425C>G
  hgvsp: ENSP00000343840.6:p.Ala142Gly
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.465C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.509C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.639C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.491C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.425C>G
  hgvsp: ENSP00000378167.3:p.Ala142Gly
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.323C>G
  hgvsp: ENSP00000326050.7:p.Ala108Gly
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.425C>G
  hgvsp: ENSP00000404320.2:p.Ala142Gly
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.323C>G
  hgvsp: ENSP00000420192.1:p.Ala108Gly
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.479C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.425C>G
  hgvsp: ENSP00000401451.1:p.Ala142Gly
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.425C>G
  hgvsp: ENSP00000444919.1:p.Ala142Gly
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*430C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*313C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2944C>G
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala142Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

3-56598040-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598040
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598040
    reference: chr 3
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.446A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*319A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*399A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.431A>G
  hgvsp: ENSP00000444919.1:p.Asn144Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.431A>G
  hgvsp: ENSP00000404320.2:p.Asn144Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.485A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.515A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.329A>G
  hgvsp: ENSP00000326050.7:p.Asn110Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.431A>G
  hgvsp: ENSP00000401451.1:p.Asn144Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.431A>G
  hgvsp: ENSP00000378167.3:p.Asn144Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.329A>G
  hgvsp: ENSP00000420192.1:p.Asn110Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.645A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.431A>G
  hgvsp: ENSP00000343840.6:p.Asn144Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2938A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.471A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*436A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.497A>G
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28003
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn144Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-56598041-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598041
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598041
    reference: chr 3
allele count: 294
allele frequency: 2.435710498409332e-3
allele num: 120704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.432C>T
  hgvsp: ENST00000436465.2:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.447C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.330C>T
  hgvsp: ENST00000471681.1:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.432C>T
  hgvsp: ENST00000538560.1:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.432C>T
  hgvsp: ENST00000341455.6:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.432C>T
  hgvsp: ENST00000394672.3:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*320C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.498C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*400C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.472C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.432C>T
  hgvsp: ENST00000422222.1:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.646C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.516C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.486C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*437C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2937C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.330C>T
  hgvsp: ENST00000326595.7:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 13198
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
hgvs: p.Asn144Asn
num of homozygotes: 3
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

3-56598042-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598042
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598042
    reference: chr 3
allele count: 6
allele frequency: 4.970755389127301e-5
allele num: 120706
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*438A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.433A>G
  hgvsp: ENSP00000444919.1:p.Met145Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.499A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.433A>G
  hgvsp: ENSP00000401451.1:p.Met145Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.517A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.433A>G
  hgvsp: ENSP00000404320.2:p.Met145Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.487A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2936A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.331A>G
  hgvsp: ENSP00000326050.7:p.Met111Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.448A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.433A>G
  hgvsp: ENSP00000378167.3:p.Met145Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*321A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*401A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.473A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.331A>G
  hgvsp: ENSP00000420192.1:p.Met111Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.433A>G
  hgvsp: ENSP00000343840.6:p.Met145Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.647A>G
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met145Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-56598044-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598044
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598044
    reference: chr 3
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.333G>A
  hgvsp: ENSP00000326050.7:p.Met111Ile
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.649G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*440G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.435G>A
  hgvsp: ENSP00000404320.2:p.Met145Ile
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.333G>A
  hgvsp: ENSP00000420192.1:p.Met111Ile
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.519G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.435G>A
  hgvsp: ENSP00000444919.1:p.Met145Ile
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*403G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.435G>A
  hgvsp: ENSP00000401451.1:p.Met145Ile
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.435G>A
  hgvsp: ENSP00000343840.6:p.Met145Ile
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.435G>A
  hgvsp: ENSP00000378167.3:p.Met145Ile
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*323G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.450G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.501G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.489G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.475G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2934G>A
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met145Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

3-56598050-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598050
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598050
    reference: chr 3
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.441C>T
  hgvsp: ENST00000538560.1:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.339C>T
  hgvsp: ENST00000326595.7:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*329C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*409C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.655C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.441C>T
  hgvsp: ENST00000436465.2:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.507C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.339C>T
  hgvsp: ENST00000471681.1:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.441C>T
  hgvsp: ENST00000394672.3:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.456C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.441C>T
  hgvsp: ENST00000422222.1:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*446C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.441C>T
  hgvsp: ENST00000341455.6:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.481C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.525C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2928C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.495C>T
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser147Ser
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

3-56598051-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598051
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598051
    reference: chr 3
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.508A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.340A>G
  hgvsp: ENSP00000420192.1:p.Ser114Gly
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.442A>G
  hgvsp: ENSP00000401451.1:p.Ser148Gly
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*330A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*447A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2927A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.340A>G
  hgvsp: ENSP00000326050.7:p.Ser114Gly
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.442A>G
  hgvsp: ENSP00000404320.2:p.Ser148Gly
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.442A>G
  hgvsp: ENSP00000378167.3:p.Ser148Gly
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.442A>G
  hgvsp: ENSP00000343840.6:p.Ser148Gly
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.442A>G
  hgvsp: ENSP00000444919.1:p.Ser148Gly
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.457A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.526A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*410A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.656A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.496A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.482A>G
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser148Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS

3-56598055-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598055
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598055
    reference: chr 3
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.446T>A
  hgvsp: ENSP00000444919.1:p.Leu149Ter
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.660T>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.344T>A
  hgvsp: ENSP00000326050.7:p.Leu115Ter
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.530T>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.446T>A
  hgvsp: ENSP00000343840.6:p.Leu149Ter
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.512T>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.446T>A
  hgvsp: ENSP00000404320.2:p.Leu149Ter
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.446T>A
  hgvsp: ENSP00000378167.3:p.Leu149Ter
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*414T>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.446T>A
  hgvsp: ENSP00000401451.1:p.Leu149Ter
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2923T>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*334T>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.486T>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.344T>A
  hgvsp: ENSP00000420192.1:p.Leu115Ter
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*451T>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.500T>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.461T>A
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu149Ter
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-56598055-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598055
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598055
    reference: chr 3
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.446T>C
  hgvsp: ENSP00000401451.1:p.Leu149Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.446T>C
  hgvsp: ENSP00000343840.6:p.Leu149Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.344T>C
  hgvsp: ENSP00000326050.7:p.Leu115Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.500T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.446T>C
  hgvsp: ENSP00000444919.1:p.Leu149Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*414T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.660T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.530T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*334T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.461T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.512T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.446T>C
  hgvsp: ENSP00000378167.3:p.Leu149Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.344T>C
  hgvsp: ENSP00000420192.1:p.Leu115Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2923T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.446T>C
  hgvsp: ENSP00000404320.2:p.Leu149Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*451T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.486T>C
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu149Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

3-56598059-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598059
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598059
    reference: chr 3
allele count: 1
allele frequency: 8.288300235387727e-6
allele num: 120652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.490G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.450G>A
  hgvsp: ENST00000341455.6:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.465G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.348G>A
  hgvsp: ENST00000326595.7:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.664G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*455G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.450G>A
  hgvsp: ENST00000436465.2:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.450G>A
  hgvsp: ENST00000394672.3:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.504G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.516G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.450G>A
  hgvsp: ENST00000422222.1:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*418G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.450G>A
  hgvsp: ENST00000538560.1:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.534G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*338G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.348G>A
  hgvsp: ENST00000471681.1:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2919G>A
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val150Val
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

3-56598061-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598061
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598061
    reference: chr 3
allele count: 1
allele frequency: 8.288712431410904e-6
allele num: 120646
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.452G>C
  hgvsp: ENSP00000401451.1:p.Cys151Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.666G>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.467G>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.492G>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.452G>C
  hgvsp: ENSP00000404320.2:p.Cys151Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.536G>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.452G>C
  hgvsp: ENSP00000444919.1:p.Cys151Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.518G>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.452G>C
  hgvsp: ENSP00000378167.3:p.Cys151Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*420G>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.506G>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.350G>C
  hgvsp: ENSP00000420192.1:p.Cys117Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*340G>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.350G>C
  hgvsp: ENSP00000326050.7:p.Cys117Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*457G>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.452G>C
  hgvsp: ENSP00000343840.6:p.Cys151Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2917G>C
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13275
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys151Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

3-56598066-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598066
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598066
    reference: chr 3
allele count: 21
allele frequency: 1.740802758757896e-4
allele num: 120634
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.355A>G
  hgvsp: ENSP00000326050.7:p.Thr119Ala
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.355A>G
  hgvsp: ENSP00000420192.1:p.Thr119Ala
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.457A>G
  hgvsp: ENSP00000401451.1:p.Thr153Ala
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*345A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*425A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.541A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.523A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*462A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.457A>G
  hgvsp: ENSP00000343840.6:p.Thr153Ala
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.457A>G
  hgvsp: ENSP00000378167.3:p.Thr153Ala
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.457A>G
  hgvsp: ENSP00000404320.2:p.Thr153Ala
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.511A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.472A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2912A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.457A>G
  hgvsp: ENSP00000444919.1:p.Thr153Ala
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.497A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.671A>G
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Thr153Ala
num of homozygotes: 1
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/3-56598068-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598068
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598068
    reference: chr 3
allele count: 1
allele frequency: 8.289949265510494e-6
allele num: 120628
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.459A>C
  hgvsp: ENST00000341455.6:c.459A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.357A>C
  hgvsp: ENST00000471681.1:c.357A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*464A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.459A>C
  hgvsp: ENST00000394672.3:c.459A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.474A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.525A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*347A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.673A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.499A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.357A>C
  hgvsp: ENST00000326595.7:c.357A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.459A>C
  hgvsp: ENST00000422222.1:c.459A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.459A>C
  hgvsp: ENST00000436465.2:c.459A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.459A>C
  hgvsp: ENST00000538560.1:c.459A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*427A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.513A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2910A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.543A>C
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr153Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-56598068-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598068
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598068
    reference: chr 3
allele count: 1
allele frequency: 8.289949265510494e-6
allele num: 120628
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.459A>G
  hgvsp: ENST00000436465.2:c.459A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.543A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.357A>G
  hgvsp: ENST00000326595.7:c.357A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.673A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.459A>G
  hgvsp: ENST00000538560.1:c.459A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.459A>G
  hgvsp: ENST00000422222.1:c.459A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2910A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.525A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.357A>G
  hgvsp: ENST00000471681.1:c.357A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*464A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*427A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.513A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.474A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.459A>G
  hgvsp: ENST00000394672.3:c.459A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.459A>G
  hgvsp: ENST00000341455.6:c.459A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*347A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.499A>G
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr153Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

3-56598069-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598069
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598069
    reference: chr 3
allele count: 1
allele frequency: 8.290774026663129e-6
allele num: 120616
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2909C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.358C>G
  hgvsp: ENSP00000420192.1:p.Gln120Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.358C>G
  hgvsp: ENSP00000326050.7:p.Gln120Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*465C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.526C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.475C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*428C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.460C>G
  hgvsp: ENSP00000378167.3:p.Gln154Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.460C>G
  hgvsp: ENSP00000343840.6:p.Gln154Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.514C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.544C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.460C>G
  hgvsp: ENSP00000444919.1:p.Gln154Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.674C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.460C>G
  hgvsp: ENSP00000401451.1:p.Gln154Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.460C>G
  hgvsp: ENSP00000404320.2:p.Gln154Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*348C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.500C>G
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln154Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

3-56598071-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598071
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598071
    reference: chr 3
allele count: 2
allele frequency: 1.658017342861406e-5
allele num: 120626
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*467A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.462A>G
  hgvsp: ENST00000538560.1:c.462A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.462A>G
  hgvsp: ENST00000394672.3:c.462A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.462A>G
  hgvsp: ENST00000341455.6:c.462A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.516A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.528A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.360A>G
  hgvsp: ENST00000326595.7:c.360A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.477A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.462A>G
  hgvsp: ENST00000436465.2:c.462A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.360A>G
  hgvsp: ENST00000471681.1:c.360A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.676A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.462A>G
  hgvsp: ENST00000422222.1:c.462A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*430A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.502A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*350A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2907A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.546A>G
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln154Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

3-56598075-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598075
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598075
    reference: chr 3
allele count: 1
allele frequency: 8.292011476143882e-6
allele num: 120598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.680C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.466C>T
  hgvsp: ENSP00000378167.3:p.Gln156Ter
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.481C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.466C>T
  hgvsp: ENSP00000343840.6:p.Gln156Ter
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.532C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*434C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*471C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.364C>T
  hgvsp: ENSP00000326050.7:p.Gln122Ter
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.364C>T
  hgvsp: ENSP00000420192.1:p.Gln122Ter
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.506C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.466C>T
  hgvsp: ENSP00000404320.2:p.Gln156Ter
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.466C>T
  hgvsp: ENSP00000444919.1:p.Gln156Ter
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.466C>T
  hgvsp: ENSP00000401451.1:p.Gln156Ter
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*354C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.550C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.520C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2903C>T
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln156Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

3-56598081-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598081
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598081
    reference: chr 3
allele count: 2
allele frequency: 1.658677370664632e-5
allele num: 120578
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*477C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.526C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.472C>G
  hgvsp: ENSP00000401451.1:p.Gln158Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.472C>G
  hgvsp: ENSP00000444919.1:p.Gln158Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.556C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.512C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.472C>G
  hgvsp: ENSP00000378167.3:p.Gln158Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*360C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.472C>G
  hgvsp: ENSP00000343840.6:p.Gln158Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.487C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.370C>G
  hgvsp: ENSP00000326050.7:p.Gln124Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.472C>G
  hgvsp: ENSP00000404320.2:p.Gln158Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.370C>G
  hgvsp: ENSP00000420192.1:p.Gln124Glu
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.538C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*440C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.686C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2897C>G
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln158Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-56598084-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598084
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598084
    reference: chr 3
allele count: 2
allele frequency: 1.658842459731599e-5
allele num: 120566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.475C>T
  hgvsp: ENSP00000401451.1:p.Gln159Ter
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*480C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.475C>T
  hgvsp: ENSP00000343840.6:p.Gln159Ter
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*363C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.475C>T
  hgvsp: ENSP00000404320.2:p.Gln159Ter
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.559C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.689C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.515C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.475C>T
  hgvsp: ENSP00000378167.3:p.Gln159Ter
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.373C>T
  hgvsp: ENSP00000420192.1:p.Gln125Ter
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*443C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.373C>T
  hgvsp: ENSP00000326050.7:p.Gln125Ter
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.475C>T
  hgvsp: ENSP00000444919.1:p.Gln159Ter
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.490C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.529C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.541C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2894C>T
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln159Ter
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

3-56598090-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598090
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598090
    reference: chr 3
allele count: 1
allele frequency: 8.296276631047985e-6
allele num: 120536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.481T>A
  hgvsp: ENSP00000404320.2:p.Leu161Met
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*486T>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.547T>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.521T>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.379T>A
  hgvsp: ENSP00000420192.1:p.Leu127Met
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.481T>A
  hgvsp: ENSP00000343840.6:p.Leu161Met
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.481T>A
  hgvsp: ENSP00000401451.1:p.Leu161Met
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2888T>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.379T>A
  hgvsp: ENSP00000326050.7:p.Leu127Met
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.695T>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.481T>A
  hgvsp: ENSP00000444919.1:p.Leu161Met
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.481T>A
  hgvsp: ENSP00000378167.3:p.Leu161Met
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*449T>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*369T>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.535T>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.496T>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.565T>A
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu161Met
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

3-56598091-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598091
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598091
    reference: chr 3
allele count: 2
allele frequency: 1.659337924168257e-5
allele num: 120530
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*370T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.548T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.482T>C
  hgvsp: ENSP00000343840.6:p.Leu161Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.482T>C
  hgvsp: ENSP00000401451.1:p.Leu161Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.566T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.696T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.522T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*487T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.497T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.380T>C
  hgvsp: ENSP00000326050.7:p.Leu127Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.482T>C
  hgvsp: ENSP00000404320.2:p.Leu161Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.482T>C
  hgvsp: ENSP00000444919.1:p.Leu161Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.482T>C
  hgvsp: ENSP00000378167.3:p.Leu161Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.536T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2887T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.380T>C
  hgvsp: ENSP00000420192.1:p.Leu127Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*450T>C
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu161Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-56598093-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598093
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598093
    reference: chr 3
allele count: 2
allele frequency: 1.659558225600345e-5
allele num: 120514
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.382A>G
  hgvsp: ENSP00000420192.1:p.Met128Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*452A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.484A>G
  hgvsp: ENSP00000444919.1:p.Met162Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.538A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.382A>G
  hgvsp: ENSP00000326050.7:p.Met128Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2885A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.484A>G
  hgvsp: ENSP00000404320.2:p.Met162Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.484A>G
  hgvsp: ENSP00000401451.1:p.Met162Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.550A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.484A>G
  hgvsp: ENSP00000343840.6:p.Met162Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.484A>G
  hgvsp: ENSP00000378167.3:p.Met162Val
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.698A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.499A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*372A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.524A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.568A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*489A>G
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met162Val
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

3-56598097-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598097
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598097
    reference: chr 3
allele count: 1
allele frequency: 8.299306178003518e-6
allele num: 120492
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.386C>G
  hgvsp: ENSP00000326050.7:p.Thr129Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.488C>G
  hgvsp: ENSP00000404320.2:p.Thr163Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.488C>G
  hgvsp: ENSP00000444919.1:p.Thr163Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.528C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.572C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*456C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.702C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.488C>G
  hgvsp: ENSP00000378167.3:p.Thr163Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.488C>G
  hgvsp: ENSP00000401451.1:p.Thr163Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*376C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.488C>G
  hgvsp: ENSP00000343840.6:p.Thr163Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*493C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.554C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.386C>G
  hgvsp: ENSP00000420192.1:p.Thr129Ser
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.542C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.503C>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2881C>G
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28354
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr163Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

3-56598098-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598098
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598098
    reference: chr 3
allele count: 2
allele frequency: 1.659861235600704e-5
allele num: 120492
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.529T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.504T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.489T>C
  hgvsp: ENST00000422222.1:c.489T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.489T>C
  hgvsp: ENST00000538560.1:c.489T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.573T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2880T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*377T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.703T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.489T>C
  hgvsp: ENST00000436465.2:c.489T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.489T>C
  hgvsp: ENST00000394672.3:c.489T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*457T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.489T>C
  hgvsp: ENST00000341455.6:c.489T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.555T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.387T>C
  hgvsp: ENST00000326595.7:c.387T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.543T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.387T>C
  hgvsp: ENST00000471681.1:c.387T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*494T>C
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr163Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/3-56598105-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598105
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598105
    reference: chr 3
allele count: 2
allele frequency: 1.660853678790898e-5
allele num: 120420
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.580C>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.511C>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.496C>A
  hgvsp: ENSP00000343840.6:p.Gln166Lys
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.394C>A
  hgvsp: ENSP00000326050.7:p.Gln132Lys
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.394C>A
  hgvsp: ENSP00000420192.1:p.Gln132Lys
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.496C>A
  hgvsp: ENSP00000444919.1:p.Gln166Lys
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2873C>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.562C>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.550C>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.496C>A
  hgvsp: ENSP00000378167.3:p.Gln166Lys
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.496C>A
  hgvsp: ENSP00000401451.1:p.Gln166Lys
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*464C>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*501C>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.536C>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.710C>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*384C>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.496C>A
  hgvsp: ENSP00000404320.2:p.Gln166Lys
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln166Lys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-56598118-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598118
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598118
    reference: chr 3
allele count: 3
allele frequency: 2.494429108324741e-5
allele num: 120268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.509C>T
  hgvsp: ENSP00000444919.1:p.Ser170Phe
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.407C>T
  hgvsp: ENSP00000326050.7:p.Ser136Phe
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.723C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.509C>T
  hgvsp: ENSP00000401451.1:p.Ser170Phe
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.593C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*514C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.407C>T
  hgvsp: ENSP00000420192.1:p.Ser136Phe
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*397C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*477C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.509C>T
  hgvsp: ENSP00000343840.6:p.Ser170Phe
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.575C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.509C>T
  hgvsp: ENSP00000404320.2:p.Ser170Phe
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.509C>T
  hgvsp: ENSP00000378167.3:p.Ser170Phe
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2860C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.549C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.524C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.563C>T
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28321
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser170Phe
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum

3-56598134-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598134
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598134
    reference: chr 3
allele count: 2
allele frequency: 1.672856234735187e-5
allele num: 119556
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.525G>A
  hgvsp: ENST00000341455.6:c.525G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.525G>A
  hgvsp: ENST00000394672.3:c.525G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.565G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.525G>A
  hgvsp: ENST00000422222.1:c.525G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.609G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*413G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.423G>A
  hgvsp: ENST00000471681.1:c.423G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.525G>A
  hgvsp: ENST00000538560.1:c.525G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.540G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.525G>A
  hgvsp: ENST00000436465.2:c.525G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2844G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*530G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.423G>A
  hgvsp: ENST00000326595.7:c.423G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.579G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*493G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.591G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.739G>A
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu175Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-56598136-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598136
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598136
    reference: chr 3
allele count: 19
allele frequency: 1.589053927472233e-4
allele num: 119568
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*495A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.527A>C
  hgvsp: ENSP00000444919.1:p.Asn176Thr
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.593A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.611A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.542A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*415A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.425A>C
  hgvsp: ENSP00000326050.7:p.Asn142Thr
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.527A>C
  hgvsp: ENSP00000404320.2:p.Asn176Thr
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.527A>C
  hgvsp: ENSP00000378167.3:p.Asn176Thr
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.581A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.527A>C
  hgvsp: ENSP00000401451.1:p.Asn176Thr
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*532A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.567A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.527A>C
  hgvsp: ENSP00000343840.6:p.Asn176Thr
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.741A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2842A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.425A>C
  hgvsp: ENSP00000420192.1:p.Asn142Thr
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12725
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn176Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

3-56598137-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598137
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598137
    reference: chr 3
allele count: 5
allele frequency: 4.185991996383303e-5
allele num: 119446
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.528T>C
  hgvsp: ENST00000436465.2:c.528T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*533T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.594T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.528T>C
  hgvsp: ENST00000538560.1:c.528T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2841T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.528T>C
  hgvsp: ENST00000422222.1:c.528T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*416T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.612T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.528T>C
  hgvsp: ENST00000394672.3:c.528T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.742T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.426T>C
  hgvsp: ENST00000326595.7:c.426T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.426T>C
  hgvsp: ENST00000471681.1:c.426T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.528T>C
  hgvsp: ENST00000341455.6:c.528T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.582T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*496T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.543T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.568T>C
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13081
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28109
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn176Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

3-56598146-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598146
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598146
    reference: chr 3
allele count: 1
allele frequency: 8.468260957929679e-6
allele num: 118088
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.435G>C
  hgvsp: ENSP00000326050.7:p.Glu145Asp
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2832G>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000459746
  gene symbol: CCDC66
  hgvsc: ENST00000459746.1:n.621G>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*542G>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.537G>C
  hgvsp: ENSP00000401451.1:p.Glu179Asp
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.537G>C
  hgvsp: ENSP00000404320.2:p.Glu179Asp
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.537G>C
  hgvsp: ENSP00000444919.1:p.Glu179Asp
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*505G>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.537G>C
  hgvsp: ENSP00000343840.6:p.Glu179Asp
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.435G>C
  hgvsp: ENSP00000420192.1:p.Glu145Asp
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*425G>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.552G>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.577G>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.537G>C
  hgvsp: ENSP00000378167.3:p.Glu179Asp
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.591G>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.603G>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.751G>C
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu179Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

3-56598154-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598154
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598154
    reference: chr 3
allele count: 1
allele frequency: 8.602742554326319e-6
allele num: 116242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2824G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.544+1G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.610+1G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.442+1G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*512+1G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.442+1G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.544+1G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.544+1G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*549+1G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.559+1G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.759G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.544+1G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.544+1G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.598+1G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.584+1G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*433G>A
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.544+1G>A
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/3-56598167-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598167
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598167
    reference: chr 3
allele count: 1
allele frequency: 8.941504676406945e-6
allele num: 111838
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.559+14A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.610+14A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*512+14A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.772A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.598+14A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.442+14A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.544+14A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.442+14A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*446A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.544+14A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2811A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.544+14A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*549+14A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.544+14A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.584+14A>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.544+14A>C
  variant of: http://identifiers.org/hgnc/27709
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9999
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22448
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

3-56598167-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598167
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598167
    reference: chr 3
allele count: 2
allele frequency: 1.788300935281389e-5
allele num: 111838
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000390652
  ensembl transcript: ENST00000439445
  gene symbol: CCDC66
  hgvsc: ENST00000439445.1:c.*446A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.559+14A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.598+14A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.442+14A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.610+14A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*549+14A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.772A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*512+14A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2811A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.584+14A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.544+14A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.544+14A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.442+14A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.544+14A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.544+14A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.544+14A>G
  variant of: http://identifiers.org/hgnc/27709
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9999
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

3-56598172-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598172
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598172
    reference: chr 3
allele count: 4
allele frequency: 3.670869812602096e-5
allele num: 108966
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*549+19T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*512+19T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.544+19T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.777T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.610+19T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.584+19T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.544+19T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.442+19T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.598+19T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.544+19T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.442+19T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2806T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.544+19T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.544+19T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.559+19T>C
  variant of: http://identifiers.org/hgnc/27709
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7568
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

3-56598176-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598176
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598176
    reference: chr 3
allele count: 512
allele frequency: 4.737582352505737e-3
allele num: 108072
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.559+23A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.544+23A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.598+23A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.781A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*512+23A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*549+23A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.544+23A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.544+23A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.442+23A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.544+23A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.584+23A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.442+23A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.610+23A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.544+23A>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2802A>G
  variant of: http://identifiers.org/hgnc/27709
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 1.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 3.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 15571
  bin: 1.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17049
  bin: 2.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
num of homozygotes: 14
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum

3-56598177-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598177
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598177
    reference: chr 3
allele count: 3
allele frequency: 2.781331701618735e-5
allele num: 107862
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.442+24T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.544+24T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.559+24T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000469966
  gene symbol: CCDC66
  hgvsc: ENST00000469966.1:n.782T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.584+24T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.544+24T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.544+24T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.544+24T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*549+24T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.610+24T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.598+24T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2801T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.442+24T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.544+24T>C
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*512+24T>C
  variant of: http://identifiers.org/hgnc/27709
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17153
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7317
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-56598186-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598186
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598187
    reference: chr 3
allele count: 1
allele frequency: 9.569377990430622e-6
allele num: 104500
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*549+39dupT
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*512+39dupT
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.544+39dupT
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2786dupT
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.544+39dupT
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.544+39dupT
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.559+39dupT
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.584+39dupT
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.544+39dupT
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.544+39dupT
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.442+39dupT
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.598+39dupT
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.442+39dupT
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.610+39dupT
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18938
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

3-56598198-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56598198
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56598198
    reference: chr 3
allele count: 1
allele frequency: 1.024191400888998e-5
allele num: 97638
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.544+45T>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*512+45T>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.544+45T>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.584+45T>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.598+45T>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.442+45T>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*549+45T>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-2780T>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.544+45T>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.610+45T>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.442+45T>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.544+45T>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.559+45T>G
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.544+45T>G
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14916
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

3-56599130-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56599130
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56599130
    reference: chr 3
allele count: 2
allele frequency: 1.644736842105263e-4
allele num: 12160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*550-32G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.585-32G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.544+977G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*512+977G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.544+977G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.611-32G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-1848G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.559+977G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.598+977G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.442+977G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.544+977G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.544+977G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.544+977G>A
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.442+977G>A
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum

3-56599131-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56599131
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 56599131
    reference: chr 3
allele count: 1
allele frequency: 8.227743952608195e-5
allele num: 12154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000472582
  gene symbol: CCDC66
  hgvsc: ENST00000472582.1:n.585-31C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000442522
  gene symbol: CCDC66
  hgvsc: ENST00000442522.2:n.559+978C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000343840
  ensembl transcript: ENST00000341455
  gene symbol: CCDC66
  hgvsc: ENST00000341455.6:c.544+978C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000401451
  ensembl transcript: ENST00000422222
  gene symbol: CCDC66
  hgvsc: ENST00000422222.1:c.544+978C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000326050
  ensembl transcript: ENST00000326595
  gene symbol: CCDC66
  hgvsc: ENST00000326595.7:c.442+978C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000420192
  ensembl transcript: ENST00000471681
  gene symbol: CCDC66
  hgvsc: ENST00000471681.1:c.442+978C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000394704
  ensembl transcript: ENST00000434467
  gene symbol: CCDC66
  hgvsc: ENST00000434467.1:c.*512+978C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000410510
  ensembl transcript: ENST00000422788
  gene symbol: CCDC66
  hgvsc: ENST00000422788.1:c.*550-31C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000444919
  ensembl transcript: ENST00000538560
  gene symbol: CCDC66
  hgvsc: ENST00000538560.1:c.544+978C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000484623
  gene symbol: CCDC66
  hgvsc: ENST00000484623.1:n.93-1847C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000473322
  gene symbol: CCDC66
  hgvsc: ENST00000473322.1:n.611-31C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000404320
  ensembl transcript: ENST00000436465
  gene symbol: CCDC66
  hgvsc: ENST00000436465.2:c.544+978C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl transcript: ENST00000460838
  gene symbol: CCDC66
  hgvsc: ENST00000460838.1:n.598+978C>T
  variant of: http://identifiers.org/hgnc/27709
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180376
  ensembl protein: ENSP00000378167
  ensembl transcript: ENST00000394672
  gene symbol: CCDC66
  hgvsc: ENST00000394672.3:c.544+978C>T
  variant of: http://identifiers.org/hgnc/27709
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 3131
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 380
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7264
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 215
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3098
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 708
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 49
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 366
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1602
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41150
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2920
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 472
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2117
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4823
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3214
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1495
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9876
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15790
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.796622349982034e-4
allele num: 11132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.598157153826465e-5
allele num: 62512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.352e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

DP
type: SiteQuality
SIO_000300: 1.458605e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

FS
type: SiteQuality
SIO_000300: 2.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.575e0

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

GenotypeDepth
all individuals: 7338
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 425
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 152
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3122
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 573
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42922
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 223
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 444
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 215
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 367
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 49
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 381
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 712
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 222
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2992
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2159
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4878
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41420
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2927
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1525
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1627
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9910
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.936550491510277e-5
allele num: 11190
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.592508838424053e-5
allele num: 62794
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.313131313131313e-5
allele num: 15840
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.463215e6

FS
type: SiteQuality
SIO_000300: 6.526e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.879999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.077e0

MQRankSum
type: SiteQuality
SIO_000300: 9.54e-1

QD
type: SiteQuality
SIO_000300: 1.275e1

VQSLOD
type: SiteQuality
SIO_000300: 4.43e-1

GenotypeDepth
all individuals: 462
bin: 9.25e1
variant carriers: 462

GenotypeDepth
all individuals: 7472
bin: 3.25e1
variant carriers: 7282

GenotypeDepth
all individuals: 618
bin: 7.75e1
variant carriers: 618

GenotypeDepth
all individuals: 6792
bin: 2.75e1
variant carriers: 6050

GenotypeDepth
all individuals: 7587
bin: 2.25e1
variant carriers: 4185

GenotypeDepth
all individuals: 514
bin: 8.75e1
variant carriers: 513

GenotypeDepth
all individuals: 7504
bin: 3.75e1
variant carriers: 7465

GenotypeDepth
all individuals: 6358
bin: 4.25e1
variant carriers: 6332

GenotypeDepth
all individuals: 7182
bin: 9.75e1
variant carriers: 7182

GenotypeDepth
all individuals: 585
bin: 8.25e1
variant carriers: 584

GenotypeDepth
all individuals: 3
bin: 2.5e0
variant carriers: 3

GenotypeDepth
all individuals: 1968
bin: 1.75e1
variant carriers: 1944

GenotypeDepth
all individuals: 1313
bin: 6.25e1
variant carriers: 1309

GenotypeDepth
all individuals: 2032
bin: 5.75e1
variant carriers: 2027

GenotypeDepth
all individuals: 936
bin: 6.75e1
variant carriers: 935

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 38

GenotypeQuality
all individuals: 4985
bin: 6.25e1
variant carriers: 1109

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 27

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 45

GenotypeQuality
all individuals: 1568
bin: 7.75e1
variant carriers: 1535

GenotypeQuality
all individuals: 751
bin: 5.25e1
variant carriers: 723

GenotypeQuality
all individuals: 548
bin: 4.75e1
variant carriers: 515

GenotypeQuality
all individuals: 174
bin: 2.25e1
variant carriers: 84

GenotypeQuality
all individuals: 1010
bin: 8.75e1
variant carriers: 1001

GenotypeQuality
all individuals: 550
bin: 5.75e1
variant carriers: 516

GenotypeQuality
all individuals: 75
bin: 1.75e1
variant carriers: 69

GenotypeQuality
all individuals: 173
bin: 3.25e1
variant carriers: 161

GenotypeQuality
all individuals: 1537
bin: 6.75e1
variant carriers: 1274

GenotypeQuality
all individuals: 867
bin: 7.25e1
variant carriers: 817

GenotypeQuality
all individuals: 106
bin: 2.75e1
variant carriers: 94

GenotypeQuality
all individuals: 305
bin: 3.75e1
variant carriers: 289

GenotypeQuality
all individuals: 1827
bin: 9.25e1
variant carriers: 1817

GenotypeQuality
all individuals: 44053
bin: 9.75e1
variant carriers: 44031

GenotypeQuality
all individuals: 262
bin: 4.25e1
variant carriers: 246

GenotypeQuality
all individuals: 1778
bin: 8.25e1
variant carriers: 1748

Latino
type: Population
allele count: 8593
allele frequency: 7.470874630499044e-1
allele num: 11502
num of homozygotes: 3202

African
type: Population
allele count: 6459
allele frequency: 6.249032507739938e-1
allele num: 10336
num of homozygotes: 2014

South Asian
type: Population
allele count: 9183
allele frequency: 5.590527212955071e-1
allele num: 16426
num of homozygotes: 2579

European (Finnish)
type: Population
allele count: 5538
allele frequency: 8.406193078324226e-1
allele num: 6588
num of homozygotes: 2342

East Asian
type: Population
allele count: 4726
allele frequency: 5.515873015873016e-1
allele num: 8568
num of homozygotes: 1301

European (Non-Finnish)
type: Population
allele count: 56192
allele frequency: 8.465710497770278e-1
allele num: 66376
num of homozygotes: 23789

Other
type: Population
allele count: 685
allele frequency: 7.577433628318584e-1
allele num: 904
num of homozygotes: 262

FS
type: SiteQuality
SIO_000300: 1.914e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.770000000000001e-2

DP
type: SiteQuality
SIO_000300: 3.121468e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

QD
type: SiteQuality
SIO_000300: 2.669e1

GenotypeDepth
all individuals: 74
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26757
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 677
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 955
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 91
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12542
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2731
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 543
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2211
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8846
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39691
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2158
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2142
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 4.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.61e-1

DP
type: SiteQuality
SIO_000300: 1.714041e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.341e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.77e-1

QD
type: SiteQuality
SIO_000300: 9.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 4

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 21

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 9
allele frequency: 1.354605659241421e-4
allele num: 66440
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

South Asian
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allele frequency: 6.686117189399465e-4
allele num: 16452
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 1.714761e6

InbreedingCoeff
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SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

BaseQRankSum
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SIO_000300: 3.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e-1

FS
type: SiteQuality
SIO_000300: 1.208e0

QD
type: SiteQuality
SIO_000300: 1.469e1

MQ
type: SiteQuality
SIO_000300: 5.988e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 4

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

European (Non-Finnish)
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allele count: 9
allele frequency: 1.354809573987656e-4
allele num: 66430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.514692517418964e-4
allele num: 6602
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: 10304
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.933610677760444e-4
allele num: 11538
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-2

InbreedingCoeff
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SIO_000300: -3.0e-4

DP
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SIO_000300: 1.716508e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
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SIO_000300: 1.248e1

FS
type: SiteQuality
SIO_000300: 2.748e0

VQSLOD
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SIO_000300: 1.26e0

MQRankSum
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SIO_000300: 2.71e-1

BaseQRankSum
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SIO_000300: 2.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2009
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variant carriers: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.640371229698376e-4
allele num: 8620
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66416
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.16e-1

QD
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SIO_000300: 1.167e1

VQSLOD
type: SiteQuality
SIO_000300: 9.29e-1

ReadPosRankSum
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ClippingRankSum
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SIO_000300: -3.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
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BaseQRankSum
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SIO_000300: 2.87e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.821272462360369e-4
allele num: 16472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66416
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.75e-1

BaseQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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DP
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 27

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

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

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

East Asian
type: Population
allele count: 26
allele frequency: 3.016241299303944e-3
allele num: 8620
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

MQRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

QD
type: SiteQuality
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ClippingRankSum
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MQ
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ReadPosRankSum
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BaseQRankSum
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FS
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SIO_000300: 5.22e-1

InbreedingCoeff
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SIO_000300: 1.18e-2

VQSLOD
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SIO_000300: 4.7e0

MQRankSum
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SIO_000300: 3.27e-1

DP
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SIO_000300: 1.734636e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

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

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

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

East Asian
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Other
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num of homozygotes: 0

Latino
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allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
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FS
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QD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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SIO_000300: 2.04e-1

MQRankSum
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SIO_000300: -6.96e-1

ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

South Asian
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allele num: 16458
num of homozygotes: 0

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

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

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

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

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

African
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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South Asian
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num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

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

Latino
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66318
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East Asian
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num of homozygotes: 0

African
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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DP
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

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

South Asian
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allele frequency: 6.076810889645114e-5
allele num: 16456
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66318
num of homozygotes: 0

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

African
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allele 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: 8628
num of homozygotes: 0

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

QD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 7.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.159999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.24e-1

DP
type: SiteQuality
SIO_000300: 1.723033e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66304
num of homozygotes: 0

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

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

BaseQRankSum
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SIO_000300: -3.238e0

VQSLOD
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DP
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ClippingRankSum
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ReadPosRankSum
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SIO_000300: -3.03e-1

MQRankSum
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QD
type: SiteQuality
SIO_000300: 1.031e1

FS
type: SiteQuality
SIO_000300: 9.27e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
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SIO_000300: -3.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508204633204633e-5
allele num: 66304
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

QD
type: SiteQuality
SIO_000300: 1.704e1

FS
type: SiteQuality
SIO_000300: 2.858e0

InbreedingCoeff
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SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.723278e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 4

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 20

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 21
allele frequency: 2.435629784272791e-3
allele num: 8622
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66294
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

FS
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MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-2

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.0790273556231e-5
allele num: 16450
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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InbreedingCoeff
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SIO_000300: 4.0e-4

FS
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DP
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ClippingRankSum
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VQSLOD
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MQRankSum
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QD
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MQ
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

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

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

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

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

Latino
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QD
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MQ
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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DP
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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South Asian
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African
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FS
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BaseQRankSum
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InbreedingCoeff
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DP
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MQRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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East Asian
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Latino
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African
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VQSLOD
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InbreedingCoeff
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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DP
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Finnish)
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DP
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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MQ
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ClippingRankSum
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FS
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MQRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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East Asian
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Latino
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African
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European (Finnish)
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QD
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DP
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FS
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VQSLOD
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Non-Finnish)
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African
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allele num: 10208
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European (Finnish)
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num of homozygotes: 0

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

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

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

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.510117789187557e-5
allele num: 66220
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QD
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DP
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MQ
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MQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

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

Latino
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East Asian
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South Asian
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European (Finnish)
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Other
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FS
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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DP
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
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num of homozygotes: 0

European (Finnish)
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East Asian
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European (Non-Finnish)
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African
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Other
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QD
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MQRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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FS
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ClippingRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

Latino
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European (Finnish)
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African
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South Asian
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Other
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East Asian
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QD
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MQRankSum
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InbreedingCoeff
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FS
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DP
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ClippingRankSum
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VQSLOD
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MQ
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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South Asian
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African
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East Asian
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Latino
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InbreedingCoeff
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MQ
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ClippingRankSum
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MQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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QD
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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Other
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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VQSLOD
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InbreedingCoeff
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MQ
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QD
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ReadPosRankSum
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MQRankSum
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FS
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DP
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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East Asian
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South Asian
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European (Finnish)
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Latino
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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DP
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FS
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MQ
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QD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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African
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South Asian
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East Asian
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DP
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ClippingRankSum
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MQ
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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GenotypeQuality
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South Asian
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European (Finnish)
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Latino
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East Asian
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African
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ReadPosRankSum
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FS
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InbreedingCoeff
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QD
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ClippingRankSum
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MQ
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MQRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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allele frequency: 8.77963125548727e-5
allele num: 11390
num of homozygotes: 0

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

African
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num of homozygotes: 0

Other
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South Asian
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East Asian
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European (Non-Finnish)
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European (Finnish)
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ClippingRankSum
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MQ
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BaseQRankSum
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QD
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MQRankSum
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FS
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DP
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8204
num of homozygotes: 0

African
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allele num: 9390
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
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allele num: 61766
num of homozygotes: 0

South Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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QD
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FS
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VQSLOD
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MQRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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SIO_000300: 3.5e-3

ClippingRankSum
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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African
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ReadPosRankSum
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MQ
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QD
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FS
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQRankSum
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DP
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BaseQRankSum
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GenotypeDepth
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variant carriers: 3

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 7.75e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10866
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.72188167229148e-5
allele num: 58076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7796
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11874
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

DP
type: SiteQuality
SIO_000300: 1.156834e6

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.918e1

VQSLOD
type: SiteQuality
SIO_000300: 4.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54590
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.946290033817386e-5
allele num: 10054
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.039367e6

BaseQRankSum
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SIO_000300: 6.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

QD
type: SiteQuality
SIO_000300: 9.51e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

GenotypeDepth
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bin: 9.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 9.75e1
variant carriers: 2

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 7.692307692307693e-3
allele num: 130
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.826455624646693e-4
allele num: 3538
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.325e1

BaseQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: -1.341e0

ReadPosRankSum
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SIO_000300: 8.25e-1

DP
type: SiteQuality
SIO_000300: 1.92896e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.93e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.391e0

MQ
type: SiteQuality
SIO_000300: 5.673e1

FS
type: SiteQuality
SIO_000300: 1.0126e1

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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