9-70484432-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70484432
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70484432
    reference: chr 9
allele count: 1
allele frequency: 1.972931381446553e-5
allele num: 50686
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.*202G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.*202G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.281G>C
  hgvsp: ENSP00000420326.1:p.Gly94Ala
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.*202G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.281G>C
  hgvsp: ENSP00000419839.1:p.Gly94Ala
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.281G>C
  hgvsp: ENSP00000418163.1:p.Gly94Ala
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.281G>C
  hgvsp: ENSP00000420033.1:p.Gly94Ala
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.271G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.481G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.281G>C
  hgvsp: ENSP00000366612.4:p.Gly94Ala
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.281G>C
  hgvsp: ENSP00000371842.3:p.Gly94Ala
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.281G>C
  hgvsp: ENSP00000366601.1:p.Gly94Ala
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000478650
  gene symbol: CBWD5
  hgvsc: ENST00000478650.2:n.40G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366609
  ensembl transcript: ENST00000377392
  gene symbol: CBWD5
  hgvsc: ENST00000377392.5:c.173G>C
  hgvsp: ENSP00000366609.5:p.Gly58Ala
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.281G>C
  hgvsp: ENSP00000397999.2:p.Gly94Ala
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.492G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.281G>C
  hgvsp: ENSP00000405076.2:p.Gly94Ala
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly94Ala
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

9-70484437-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70484437
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70484437
    reference: chr 9
allele count: 1
allele frequency: 1.926559549955689e-5
allele num: 51906
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.*197A>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.276A>C
  hgvsp: ENSP00000420033.1:p.Gln92His
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.276A>C
  hgvsp: ENSP00000419839.1:p.Gln92His
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.*197A>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.276A>C
  hgvsp: ENSP00000366612.4:p.Gln92His
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.*197A>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.276A>C
  hgvsp: ENSP00000405076.2:p.Gln92His
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000478650
  gene symbol: CBWD5
  hgvsc: ENST00000478650.2:n.35A>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366609
  ensembl transcript: ENST00000377392
  gene symbol: CBWD5
  hgvsc: ENST00000377392.5:c.168A>C
  hgvsp: ENSP00000366609.5:p.Gln56His
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.276A>C
  hgvsp: ENSP00000366601.1:p.Gln92His
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.276A>C
  hgvsp: ENSP00000397999.2:p.Gln92His
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.476A>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.276A>C
  hgvsp: ENSP00000371842.3:p.Gln92His
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.276A>C
  hgvsp: ENSP00000420326.1:p.Gln92His
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.487A>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.276A>C
  hgvsp: ENSP00000418163.1:p.Gln92His
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.266A>C
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln92His
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

9-70484442-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70484442
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70484442
    reference: chr 9
allele count: 4
allele frequency: 7.586965593111036e-5
allele num: 52722
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.271A>G
  hgvsp: ENSP00000366601.1:p.Ser91Gly
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.271A>G
  hgvsp: ENSP00000418163.1:p.Ser91Gly
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.*192A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.271A>G
  hgvsp: ENSP00000397999.2:p.Ser91Gly
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.*192A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.261A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.271A>G
  hgvsp: ENSP00000420033.1:p.Ser91Gly
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.*192A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.271A>G
  hgvsp: ENSP00000420326.1:p.Ser91Gly
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.271A>G
  hgvsp: ENSP00000419839.1:p.Ser91Gly
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.271A>G
  hgvsp: ENSP00000371842.3:p.Ser91Gly
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.271A>G
  hgvsp: ENSP00000366612.4:p.Ser91Gly
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.471A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.482A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.271A>G
  hgvsp: ENSP00000405076.2:p.Ser91Gly
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000478650
  gene symbol: CBWD5
  hgvsc: ENST00000478650.2:n.30A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366609
  ensembl transcript: ENST00000377392
  gene symbol: CBWD5
  hgvsc: ENST00000377392.5:c.163A>G
  hgvsp: ENSP00000366609.5:p.Ser55Gly
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 7752
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser91Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

9-70484451-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70484451
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70484451
    reference: chr 9
allele count: 12444
allele frequency: 2.143226206468947e-1
allele num: 58062
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.262T>C
  hgvsp: ENST00000476161.1:c.262T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.*183T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366609
  ensembl transcript: ENST00000377392
  gene symbol: CBWD5
  hgvsc: ENST00000377392.5:c.154T>C
  hgvsp: ENST00000377392.5:c.154T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.262T>C
  hgvsp: ENST00000377384.1:c.262T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.262T>C
  hgvsp: ENST00000429800.2:c.262T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.262T>C
  hgvsp: ENST00000430059.2:c.262T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000478650
  gene symbol: CBWD5
  hgvsc: ENST00000478650.2:n.21T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.262T>C
  hgvsp: ENST00000486221.1:c.262T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.*183T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.262T>C
  hgvsp: ENST00000497250.1:c.262T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.462T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.262T>C
  hgvsp: ENST00000377395.4:c.262T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.473T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.*183T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.262T>C
  hgvsp: ENST00000382405.3:c.262T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.262T>C
  hgvsp: ENST00000480229.1:c.262T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.252T>C
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
hgvs: p.Leu88Leu
num of homozygotes: 4
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

9-70484453-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70484453
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70484453
    reference: chr 9
allele count: 2
allele frequency: 3.70082528403834e-5
allele num: 54042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000478650
  gene symbol: CBWD5
  hgvsc: ENST00000478650.2:n.19C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.260C>T
  hgvsp: ENSP00000405076.2:p.Ser87Phe
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.*181C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.*181C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.260C>T
  hgvsp: ENSP00000366601.1:p.Ser87Phe
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.260C>T
  hgvsp: ENSP00000397999.2:p.Ser87Phe
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.260C>T
  hgvsp: ENSP00000420033.1:p.Ser87Phe
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.260C>T
  hgvsp: ENSP00000418163.1:p.Ser87Phe
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366609
  ensembl transcript: ENST00000377392
  gene symbol: CBWD5
  hgvsc: ENST00000377392.5:c.152C>T
  hgvsp: ENSP00000366609.5:p.Ser51Phe
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.260C>T
  hgvsp: ENSP00000371842.3:p.Ser87Phe
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.260C>T
  hgvsp: ENSP00000366612.4:p.Ser87Phe
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.250C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.260C>T
  hgvsp: ENSP00000420326.1:p.Ser87Phe
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.*181C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.471C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.460C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.260C>T
  hgvsp: ENSP00000419839.1:p.Ser87Phe
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24919
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12686
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser87Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

9-70484463-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70484463
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70484463
    reference: chr 9
allele count: 1
allele frequency: 1.937158575801015e-5
allele num: 51622
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.250C>A
  hgvsp: ENSP00000397999.2:p.Leu84Met
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.250C>A
  hgvsp: ENSP00000420033.1:p.Leu84Met
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.250C>A
  hgvsp: ENSP00000419839.1:p.Leu84Met
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.*171C>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.450C>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.250C>A
  hgvsp: ENSP00000405076.2:p.Leu84Met
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366609
  ensembl transcript: ENST00000377392
  gene symbol: CBWD5
  hgvsc: ENST00000377392.5:c.142C>A
  hgvsp: ENSP00000366609.5:p.Leu48Met
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.250C>A
  hgvsp: ENSP00000371842.3:p.Leu84Met
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.250C>A
  hgvsp: ENSP00000420326.1:p.Leu84Met
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.*171C>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.461C>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.250C>A
  hgvsp: ENSP00000366601.1:p.Leu84Met
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.250C>A
  hgvsp: ENSP00000366612.4:p.Leu84Met
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.240C>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.250C>A
  hgvsp: ENSP00000418163.1:p.Leu84Met
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000478650
  gene symbol: CBWD5
  hgvsc: ENST00000478650.2:n.9C>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.*171C>A
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14304
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu84Met
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

9-70484464-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70484464
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70484464
    reference: chr 9
allele count: 22
allele frequency: 4.307812805952614e-4
allele num: 51070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.249G>A
  hgvsp: ENST00000476161.1:c.249G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000478650
  gene symbol: CBWD5
  hgvsc: ENST00000478650.2:n.8G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.249G>A
  hgvsp: ENST00000377395.4:c.249G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.249G>A
  hgvsp: ENST00000430059.2:c.249G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.249G>A
  hgvsp: ENST00000497250.1:c.249G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.449G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.*170G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.249G>A
  hgvsp: ENST00000486221.1:c.249G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.460G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.*170G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366609
  ensembl transcript: ENST00000377392
  gene symbol: CBWD5
  hgvsc: ENST00000377392.5:c.141G>A
  hgvsp: ENST00000377392.5:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.249G>A
  hgvsp: ENST00000382405.3:c.249G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.249G>A
  hgvsp: ENST00000377384.1:c.249G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.239G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.249G>A
  hgvsp: ENST00000429800.2:c.249G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.*170G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.249G>A
  hgvsp: ENST00000480229.1:c.249G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14565
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Ala83Ala
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

9-70484465-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70484465
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70484465
    reference: chr 9
allele count: 2
allele frequency: 3.992972368631209e-5
allele num: 50088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.248C>T
  hgvsp: ENSP00000420326.1:p.Ala83Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366609
  ensembl transcript: ENST00000377392
  gene symbol: CBWD5
  hgvsc: ENST00000377392.5:c.140C>T
  hgvsp: ENSP00000366609.5:p.Ala47Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.248C>T
  hgvsp: ENSP00000418163.1:p.Ala83Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.248C>T
  hgvsp: ENSP00000371842.3:p.Ala83Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.248C>T
  hgvsp: ENSP00000419839.1:p.Ala83Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.248C>T
  hgvsp: ENSP00000405076.2:p.Ala83Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.248C>T
  hgvsp: ENSP00000420033.1:p.Ala83Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.448C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.248C>T
  hgvsp: ENSP00000366601.1:p.Ala83Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.459C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.248C>T
  hgvsp: ENSP00000397999.2:p.Ala83Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.*169C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.248C>T
  hgvsp: ENSP00000366612.4:p.Ala83Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.*169C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.*169C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.238C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000478650
  gene symbol: CBWD5
  hgvsc: ENST00000478650.2:n.7C>T
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala83Val
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

9-70484467-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70484467
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70484467
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 49966
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366609
  ensembl transcript: ENST00000377392
  gene symbol: CBWD5
  hgvsc: ENST00000377392.5:c.138T>A
  hgvsp: ENSP00000366609.5:p.Ser46Arg
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.246T>A
  hgvsp: ENSP00000371842.3:p.Ser82Arg
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.246T>A
  hgvsp: ENSP00000419839.1:p.Ser82Arg
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.246T>A
  hgvsp: ENSP00000418163.1:p.Ser82Arg
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.457T>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.246T>A
  hgvsp: ENSP00000366601.1:p.Ser82Arg
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.*167T>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.246T>A
  hgvsp: ENSP00000366612.4:p.Ser82Arg
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.246T>A
  hgvsp: ENSP00000420033.1:p.Ser82Arg
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.*167T>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.*167T>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000478650
  gene symbol: CBWD5
  hgvsc: ENST00000478650.2:n.5T>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.246T>A
  hgvsp: ENSP00000405076.2:p.Ser82Arg
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.246T>A
  hgvsp: ENSP00000397999.2:p.Ser82Arg
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.246T>A
  hgvsp: ENSP00000420326.1:p.Ser82Arg
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.446T>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.236T>A
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser82Arg
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

9-70484473-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70484473
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70484473
    reference: chr 9
allele count: 1
allele frequency: 2.122871820999448e-5
allele num: 47106
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366609
  ensembl transcript: ENST00000377392
  gene symbol: CBWD5
  hgvsc: ENST00000377392.5:c.134-2A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.442-2A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.242-2A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.242-2A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.453-2A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.242-2A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.*163-2A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.*163-2A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.242-2A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.242-2A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.242-2A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.242-2A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.232-2A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.242-2A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.242-2A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.*163-2A>G
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: splice acceptor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15395
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.242-2A>G
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

9-70484482-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70484482
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70484482
    reference: chr 9
allele count: 89
allele frequency: 2.26682288217615e-3
allele num: 39262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.453-11A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366609
  ensembl transcript: ENST00000377392
  gene symbol: CBWD5
  hgvsc: ENST00000377392.5:c.134-11A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.242-11A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.242-11A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.242-11A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.242-11A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.242-11A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.*163-11A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.242-11A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.232-11A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.242-11A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.242-11A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.242-11A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.442-11A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.*163-11A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.*163-11A>T
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19513
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

9-70484489-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70484489
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70484489
    reference: chr 9
allele count: 2
allele frequency: 6.599353263380188e-5
allele num: 30306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.453-18G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.*163-18G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.242-18G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.242-18G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.242-18G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.*163-18G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366609
  ensembl transcript: ENST00000377392
  gene symbol: CBWD5
  hgvsc: ENST00000377392.5:c.134-18G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.242-18G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.242-18G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.442-18G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.242-18G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.*163-18G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.242-18G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.242-18G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.242-18G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.232-18G>C
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9932
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum

9-70484492-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70484492
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70484492
    reference: chr 9
allele count: 3
allele frequency: 1.225490196078431e-4
allele num: 24480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.242-21G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.453-21G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.232-21G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.242-21G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.242-21G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.242-21G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.242-21G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.242-21G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.442-21G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.242-21G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.*163-21G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.242-21G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.242-21G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.*163-21G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366609
  ensembl transcript: ENST00000377392
  gene symbol: CBWD5
  hgvsc: ENST00000377392.5:c.134-21G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.*163-21G>A
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14177
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7666
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

9-70484506-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70484506
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70484506
    reference: chr 9
allele count: 13
allele frequency: 1.001849568434032e-3
allele num: 12976
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.232-35A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.242-35A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.*163-35A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.*163-35A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.242-35A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.*163-35A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.453-35A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.242-35A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366609
  ensembl transcript: ENST00000377392
  gene symbol: CBWD5
  hgvsc: ENST00000377392.5:c.134-35A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.242-35A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.242-35A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.242-35A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.442-35A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.242-35A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.242-35A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.242-35A>G
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31009
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 9342
  bin: 7.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

9-70484509-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70484509
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70484509
    reference: chr 9
allele count: 356
allele frequency: 3.058419243986254e-2
allele num: 11640
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366609
  ensembl transcript: ENST00000377392
  gene symbol: CBWD5
  hgvsc: ENST00000377392.5:c.134-38G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.*163-38G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.*163-38G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.242-38G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.242-38G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.442-38G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.242-38G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.242-38G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.242-38G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.242-38G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.242-38G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.232-38G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.453-38G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.242-38G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.*163-38G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.242-38G>A
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 9.75e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 2.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

9-70488806-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70488806
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70488805
    reference: chr 9
allele count: 2
allele frequency: 4.139072847682119e-4
allele num: 4832
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.292+9delA
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.154+1108delA
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366609
  ensembl transcript: ENST00000377392
  gene symbol: CBWD5
  hgvsc: ENST00000377392.5:c.46+13delA
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.154+1108delA
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.154+1108delA
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.154+1108delA
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.144+1108delA
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.*75+13delA
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.154+1108delA
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.365+13delA
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.206+1108delA
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.*75+13delA
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.354+13delA
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.154+1108delA
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.*75+13delA
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.154+1108delA
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.154+1108delA
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.154+1108delA
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: AT
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS

9-70488819-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70488819
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70488819
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 6234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.154+1096G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.365+1G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.354+1G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.154+1096G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.*75+1G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.154+1096G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.154+1096G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366609
  ensembl transcript: ENST00000377392
  gene symbol: CBWD5
  hgvsc: ENST00000377392.5:c.46+1G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.154+1096G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.289G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.154+1096G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.*75+1G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.154+1096G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.*75+1G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.206+1096G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.154+1096G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.144+1096G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.154+1096G>A
  variant of: http://identifiers.org/hgnc/24584
canonical: false
consequence: splice donor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.*75+1G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

9-70488844-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70488844
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70488844
    reference: chr 9
allele count: 10
allele frequency: 5.78168362627197e-4
allele num: 17296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.*51C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.*51C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.154+1071C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.330C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.264C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.154+1071C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.154+1071C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.144+1071C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.*51C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.154+1071C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366609
  ensembl transcript: ENST00000377392
  gene symbol: CBWD5
  hgvsc: ENST00000377392.5:c.22C>T
  hgvsp: ENSP00000366609.5:p.Arg8Trp
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.154+1071C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.154+1071C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.154+1071C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.341C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.154+1071C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.154+1071C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.206+1071C>T
  variant of: http://identifiers.org/hgnc/24584
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg8Trp
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

9-70488857-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70488857
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70488857
    reference: chr 9
allele count: 1
allele frequency: 5.278158978148422e-5
allele num: 18946
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.251C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.154+1058C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.*38C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.154+1058C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.*38C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.154+1058C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366609
  ensembl transcript: ENST00000377392
  gene symbol: CBWD5
  hgvsc: ENST00000377392.5:c.9C>T
  hgvsp: ENST00000377392.5:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.328C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.154+1058C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.154+1058C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.154+1058C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.144+1058C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.*38C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.154+1058C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.317C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.206+1058C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.154+1058C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.154+1058C>T
  variant of: http://identifiers.org/hgnc/24584
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe3Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

9-70488862-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70488862
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70488862
    reference: chr 9
allele count: 1
allele frequency: 5.239442523315519e-5
allele num: 19086
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.154+1053T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.154+1053T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.154+1053T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.*33T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.154+1053T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.206+1053T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.*33T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.154+1053T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366609
  ensembl transcript: ENST00000377392
  gene symbol: CBWD5
  hgvsc: ENST00000377392.5:c.4T>C
  hgvsp: ENSP00000366609.5:p.Tyr2His
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.154+1053T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.154+1053T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.144+1053T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.312T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.*33T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.323T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.154+1053T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.246T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.154+1053T>C
  variant of: http://identifiers.org/hgnc/24584
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Tyr2His
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

9-70488865-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70488865
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70488865
    reference: chr 9
allele count: 1
allele frequency: 5.214851898206091e-5
allele num: 19176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.320A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.154+1050A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.154+1050A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.144+1050A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366609
  ensembl transcript: ENST00000377392
  gene symbol: CBWD5
  hgvsc: ENST00000377392.5:c.1A>G
  hgvsp: ENSP00000366609.5:p.Met1?
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.309A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.*30A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.*30A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.154+1050A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.154+1050A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.*30A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.154+1050A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.154+1050A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.154+1050A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.154+1050A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.154+1050A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.243A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.206+1050A>G
  variant of: http://identifiers.org/hgnc/24584
canonical: false
consequence: start lost
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

9-70488871-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70488871
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70488871
    reference: chr 9
allele count: 1
allele frequency: 5.166890565257828e-5
allele num: 19354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.154+1044A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.303A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.154+1044A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.314A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.237A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.*24A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.154+1044A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.*24A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.154+1044A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.154+1044A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.*24A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.144+1044A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.154+1044A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.206+1044A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.154+1044A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.154+1044A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.154+1044A>G
  variant of: http://identifiers.org/hgnc/24584
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

9-70488890-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70488890
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70488890
    reference: chr 9
allele count: 11
allele frequency: 5.347073692397433e-4
allele num: 20572
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.*5A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.154+1025A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.154+1025A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.154+1025A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.144+1025A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.206+1025A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.284A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.154+1025A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.154+1025A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.295A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.*5A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.218A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.154+1025A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.154+1025A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.*5A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.154+1025A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.154+1025A>G
  variant of: http://identifiers.org/hgnc/24584
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

9-70488892-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70488892
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70488892
    reference: chr 9
allele count: 412
allele frequency: 1.984585741811176e-2
allele num: 20760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.154+1023A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.154+1023A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.*3A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.154+1023A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.282A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.206+1023A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.144+1023A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.216A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.293A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.*3A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.154+1023A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.*3A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.154+1023A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.154+1023A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.154+1023A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.154+1023A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.154+1023A>T
  variant of: http://identifiers.org/hgnc/24584
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 191
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 2.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 7.5e0
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 2.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
num of homozygotes: 18
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

9-70488897-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70488897
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70488897
    reference: chr 9
allele count: 1
allele frequency: 4.780114722753346e-5
allele num: 20920
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.154+1018T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.144+1018T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.154+1018T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.175T>C
  hgvsp: ENSP00000366606.1:p.Ter59ArgextTer33
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.211T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.154+1018T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.288T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.154+1018T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.175T>C
  hgvsp: ENSP00000420334.1:p.Ter59ArgextTer33
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.154+1018T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.175T>C
  hgvsp: ENSP00000417957.1:p.Ter59ArgextTer33
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.154+1018T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.154+1018T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.154+1018T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.154+1018T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.277T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.206+1018T>C
  variant of: http://identifiers.org/hgnc/24584
canonical: false
consequence: stop lost
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ter59ArgextTer33
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum

9-70488899-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70488899
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70488899
    reference: chr 9
allele count: 1
allele frequency: 4.76462740613684e-5
allele num: 20988
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.154+1016A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.206+1016A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.144+1016A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.154+1016A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.275A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.209A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.173A>G
  hgvsp: ENSP00000417957.1:p.Tyr58Cys
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.173A>G
  hgvsp: ENSP00000366606.1:p.Tyr58Cys
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.154+1016A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.154+1016A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.154+1016A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.286A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.173A>G
  hgvsp: ENSP00000420334.1:p.Tyr58Cys
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.154+1016A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.154+1016A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.154+1016A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.154+1016A>G
  variant of: http://identifiers.org/hgnc/24584
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr58Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/9-70488902-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70488902
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70488902
    reference: chr 9
allele count: 1
allele frequency: 4.761451290353299e-5
allele num: 21002
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.170T>G
  hgvsp: ENSP00000417957.1:p.Leu57Arg
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.283T>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.154+1013T>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.170T>G
  hgvsp: ENSP00000420334.1:p.Leu57Arg
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.206T>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.206+1013T>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.154+1013T>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.154+1013T>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.272T>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.170T>G
  hgvsp: ENSP00000366606.1:p.Leu57Arg
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.154+1013T>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.154+1013T>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.154+1013T>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.144+1013T>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.154+1013T>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.154+1013T>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.154+1013T>G
  variant of: http://identifiers.org/hgnc/24584
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu57Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/9-70488907-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70488907
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70488907
    reference: chr 9
allele count: 7
allele frequency: 3.333650823887989e-4
allele num: 20998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.154+1008G>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.165G>T
  hgvsp: ENSP00000420334.1:p.Arg55Ser
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.206+1008G>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.278G>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.154+1008G>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.154+1008G>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.267G>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.165G>T
  hgvsp: ENSP00000417957.1:p.Arg55Ser
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.154+1008G>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.154+1008G>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.154+1008G>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.201G>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.165G>T
  hgvsp: ENSP00000366606.1:p.Arg55Ser
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.154+1008G>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.144+1008G>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.154+1008G>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.154+1008G>T
  variant of: http://identifiers.org/hgnc/24584
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Arg55Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ

9-70488907-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70488907
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70488907
    reference: chr 9
allele count: 1
allele frequency: 4.762358319839985e-5
allele num: 20998
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.154+1008G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.154+1008G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.154+1008G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.278G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.165G>C
  hgvsp: ENSP00000420334.1:p.Arg55Ser
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.154+1008G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.267G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.154+1008G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.154+1008G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.201G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.154+1008G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.206+1008G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.165G>C
  hgvsp: ENSP00000417957.1:p.Arg55Ser
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.165G>C
  hgvsp: ENSP00000366606.1:p.Arg55Ser
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.144+1008G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.154+1008G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.154+1008G>C
  variant of: http://identifiers.org/hgnc/24584
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg55Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

9-70488910-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70488910
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70488910
    reference: chr 9
allele count: 3
allele frequency: 1.428571428571429e-4
allele num: 21000
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.154+1005A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.162A>G
  hgvsp: ENST00000465474.1:c.162A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.154+1005A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.154+1005A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.275A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.154+1005A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.206+1005A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.162A>G
  hgvsp: ENST00000377389.1:c.162A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.154+1005A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.154+1005A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.154+1005A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.198A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.162A>G
  hgvsp: ENST00000469921.1:c.162A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.144+1005A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.264A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.154+1005A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.154+1005A>G
  variant of: http://identifiers.org/hgnc/24584
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln54Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

9-70488930-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70488930
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70488930
    reference: chr 9
allele count: 2
allele frequency: 1.024275325207416e-4
allele num: 19526
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.155-13C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-13C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.154+985C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.154+985C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.154+985C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.154+985C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.155-13C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.154+985C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.154+985C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.191-13C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.257-13C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.154+985C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.206+985C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.144+985C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.154+985C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.154+985C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.155-13C>T
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

9-70488931-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70488931
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70488931
    reference: chr 9
allele count: 1
allele frequency: 5.142445747197367e-5
allele num: 19446
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.155-14G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.155-14G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.144+984G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.154+984G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.155-14G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.154+984G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.154+984G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.206+984G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.154+984G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.154+984G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.257-14G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.191-14G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.154+984G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.154+984G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-14G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.154+984G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.154+984G>A
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

9-70488953-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70488953
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70488953
    reference: chr 9
allele count: 1
allele frequency: 5.391416864351952e-5
allele num: 18548
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.155-36T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.155-36T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-36T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.154+962T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.154+962T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.257-36T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.154+962T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.155-36T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.154+962T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.154+962T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.154+962T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.154+962T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.191-36T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.206+962T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.154+962T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.144+962T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.154+962T>C
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

9-70489933-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70489933
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70489933
    reference: chr 9
allele count: 1
allele frequency: 1.497005988023952e-3
allele num: 668
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.136A>G
  hgvsp: ENSP00000397999.2:p.Ile46Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.136A>G
  hgvsp: ENSP00000417957.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.136A>G
  hgvsp: ENSP00000420326.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.136A>G
  hgvsp: ENSP00000371842.3:p.Ile46Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.136A>G
  hgvsp: ENSP00000366606.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.136A>G
  hgvsp: ENSP00000405076.2:p.Ile46Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.136A>G
  hgvsp: ENSP00000419839.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.136A>G
  hgvsp: ENSP00000366601.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.136A>G
  hgvsp: ENSP00000366612.4:p.Ile46Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.238A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.136A>G
  hgvsp: ENSP00000418163.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.136A>G
  hgvsp: ENSP00000420334.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.126A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1016A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.188A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.136A>G
  hgvsp: ENSP00000420033.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.172A>G
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile46Val
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

9-70489949-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70489949
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70489949
    reference: chr 9
allele count: 1
allele frequency: 1.228501228501228e-3
allele num: 814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.120C>T
  hgvsp: ENST00000382405.3:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.120C>T
  hgvsp: ENST00000469921.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.110C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.120C>T
  hgvsp: ENST00000465474.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.120C>T
  hgvsp: ENST00000377395.4:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.156C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1032C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.222C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.120C>T
  hgvsp: ENST00000377389.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.120C>T
  hgvsp: ENST00000429800.2:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.120C>T
  hgvsp: ENST00000480229.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.120C>T
  hgvsp: ENST00000377384.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.120C>T
  hgvsp: ENST00000476161.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.120C>T
  hgvsp: ENST00000486221.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.120C>T
  hgvsp: ENST00000430059.2:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.172C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.120C>T
  hgvsp: ENST00000497250.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala40Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

9-70489967-TTCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70489967
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70489964
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 1070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.151_153delGGA
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.99_101delGGA
  hgvsp: ENSP00000397999.2:p.Glu34del
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.99_101delGGA
  hgvsp: ENSP00000420334.1:p.Glu34del
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.99_101delGGA
  hgvsp: ENSP00000405076.2:p.Glu34del
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.99_101delGGA
  hgvsp: ENSP00000419839.1:p.Glu34del
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.99_101delGGA
  hgvsp: ENSP00000418163.1:p.Glu34del
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.99_101delGGA
  hgvsp: ENSP00000417957.1:p.Glu34del
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.99_101delGGA
  hgvsp: ENSP00000366606.1:p.Glu34del
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.99_101delGGA
  hgvsp: ENSP00000371842.3:p.Glu34del
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.99_101delGGA
  hgvsp: ENSP00000366612.4:p.Glu34del
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.99_101delGGA
  hgvsp: ENSP00000420326.1:p.Glu34del
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.89_91delGGA
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.99_101delGGA
  hgvsp: ENSP00000420033.1:p.Glu34del
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.201_203delGGA
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1053_268-1051delGGA
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.99_101delGGA
  hgvsp: ENSP00000366601.1:p.Glu34del
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.135_137delGGA
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: inframe deletion
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu34del
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: TTCC
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

9-70489995-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70489995
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70489995
    reference: chr 9
allele count: 65
allele frequency: 8.163777945239889e-3
allele num: 7962
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.74T>C
  hgvsp: ENSP00000420326.1:p.Ile25Thr
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.64T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.74T>C
  hgvsp: ENSP00000405076.2:p.Ile25Thr
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.74T>C
  hgvsp: ENSP00000420334.1:p.Ile25Thr
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.74T>C
  hgvsp: ENSP00000419839.1:p.Ile25Thr
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.126T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.110T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.176T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.74T>C
  hgvsp: ENSP00000417957.1:p.Ile25Thr
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.74T>C
  hgvsp: ENSP00000371842.3:p.Ile25Thr
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.74T>C
  hgvsp: ENSP00000366612.4:p.Ile25Thr
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.74T>C
  hgvsp: ENSP00000366606.1:p.Ile25Thr
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.74T>C
  hgvsp: ENSP00000366601.1:p.Ile25Thr
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.74T>C
  hgvsp: ENSP00000420033.1:p.Ile25Thr
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.74T>C
  hgvsp: ENSP00000397999.2:p.Ile25Thr
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.74T>C
  hgvsp: ENSP00000418163.1:p.Ile25Thr
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1078T>C
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile25Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

9-70490008-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70490008
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70490008
    reference: chr 9
allele count: 1
allele frequency: 1.342858677552774e-5
allele num: 74468
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.61G>C
  hgvsp: ENSP00000419839.1:p.Glu21Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.61G>C
  hgvsp: ENSP00000418163.1:p.Glu21Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.61G>C
  hgvsp: ENSP00000371842.3:p.Glu21Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.61G>C
  hgvsp: ENSP00000405076.2:p.Glu21Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.61G>C
  hgvsp: ENSP00000366601.1:p.Glu21Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.61G>C
  hgvsp: ENSP00000366606.1:p.Glu21Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.61G>C
  hgvsp: ENSP00000420334.1:p.Glu21Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.61G>C
  hgvsp: ENSP00000420326.1:p.Glu21Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.61G>C
  hgvsp: ENSP00000366612.4:p.Glu21Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.61G>C
  hgvsp: ENSP00000417957.1:p.Glu21Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.51G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.61G>C
  hgvsp: ENSP00000420033.1:p.Glu21Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.163G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.113G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.61G>C
  hgvsp: ENSP00000397999.2:p.Glu21Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1091G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.97G>C
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu21Gln
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

9-70490015-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70490015
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70490015
    reference: chr 9
allele count: 2
allele frequency: 1.820101197626588e-5
allele num: 109884
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.54T>C
  hgvsp: ENST00000480229.1:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.54T>C
  hgvsp: ENST00000469921.1:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.54T>C
  hgvsp: ENST00000497250.1:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.44T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.54T>C
  hgvsp: ENST00000429800.2:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.54T>C
  hgvsp: ENST00000476161.1:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.156T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1098T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.54T>C
  hgvsp: ENST00000430059.2:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.54T>C
  hgvsp: ENST00000382405.3:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.54T>C
  hgvsp: ENST00000486221.1:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.54T>C
  hgvsp: ENST00000377389.1:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.54T>C
  hgvsp: ENST00000465474.1:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.54T>C
  hgvsp: ENST00000377395.4:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.90T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.106T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.54T>C
  hgvsp: ENST00000377384.1:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 8958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp18Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

9-70490015-ATCC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70490015
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70490012
    reference: chr 9
allele count: 1
allele frequency: 9.10050598813294e-6
allele num: 109884
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.87_89delGGA
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.51_53delGGA
  hgvsp: ENSP00000405076.2:p.Glu17del
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.51_53delGGA
  hgvsp: ENSP00000366612.4:p.Glu17del
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.51_53delGGA
  hgvsp: ENSP00000420033.1:p.Glu17del
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.41_43delGGA
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1101_268-1099delGGA
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.51_53delGGA
  hgvsp: ENSP00000417957.1:p.Glu17del
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.51_53delGGA
  hgvsp: ENSP00000366601.1:p.Glu17del
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.51_53delGGA
  hgvsp: ENSP00000420326.1:p.Glu17del
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.51_53delGGA
  hgvsp: ENSP00000418163.1:p.Glu17del
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.51_53delGGA
  hgvsp: ENSP00000371842.3:p.Glu17del
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.51_53delGGA
  hgvsp: ENSP00000397999.2:p.Glu17del
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.51_53delGGA
  hgvsp: ENSP00000366606.1:p.Glu17del
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.153_155delGGA
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.51_53delGGA
  hgvsp: ENSP00000419839.1:p.Glu17del
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.103_105delGGA
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.51_53delGGA
  hgvsp: ENSP00000420334.1:p.Glu17del
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu17del
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: ATCC
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-70490018-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70490018
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70490018
    reference: chr 9
allele count: 77
allele frequency: 6.807412122498055e-4
allele num: 113112
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.51G>A
  hgvsp: ENST00000377395.4:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.153G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.51G>A
  hgvsp: ENST00000465474.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.51G>A
  hgvsp: ENST00000476161.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.51G>A
  hgvsp: ENST00000377389.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.41G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.51G>A
  hgvsp: ENST00000382405.3:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.51G>A
  hgvsp: ENST00000469921.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.51G>A
  hgvsp: ENST00000486221.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.51G>A
  hgvsp: ENST00000497250.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.51G>A
  hgvsp: ENST00000377384.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.51G>A
  hgvsp: ENST00000430059.2:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.51G>A
  hgvsp: ENST00000480229.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.51G>A
  hgvsp: ENST00000429800.2:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.103G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.87G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1101G>A
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Glu17Glu
num of homozygotes: 3
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/9-70490020-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70490020
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70490020
    reference: chr 9
allele count: 2
allele frequency: 1.743162445308278e-5
allele num: 114734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.49G>T
  hgvsp: ENSP00000420033.1:p.Glu17Ter
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.101G>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.49G>T
  hgvsp: ENSP00000371842.3:p.Glu17Ter
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.49G>T
  hgvsp: ENSP00000420326.1:p.Glu17Ter
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.85G>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.49G>T
  hgvsp: ENSP00000405076.2:p.Glu17Ter
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.49G>T
  hgvsp: ENSP00000420334.1:p.Glu17Ter
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.49G>T
  hgvsp: ENSP00000366606.1:p.Glu17Ter
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.49G>T
  hgvsp: ENSP00000366601.1:p.Glu17Ter
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.49G>T
  hgvsp: ENSP00000418163.1:p.Glu17Ter
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.49G>T
  hgvsp: ENSP00000419839.1:p.Glu17Ter
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.39G>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1103G>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.49G>T
  hgvsp: ENSP00000397999.2:p.Glu17Ter
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.151G>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.49G>T
  hgvsp: ENSP00000417957.1:p.Glu17Ter
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.49G>T
  hgvsp: ENSP00000366612.4:p.Glu17Ter
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu17Ter
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

9-70490020-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70490020
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70490020
    reference: chr 9
allele count: 4
allele frequency: 3.486324890616556e-5
allele num: 114734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.49G>A
  hgvsp: ENSP00000420326.1:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.49G>A
  hgvsp: ENSP00000366612.4:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.49G>A
  hgvsp: ENSP00000366606.1:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.49G>A
  hgvsp: ENSP00000397999.2:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.49G>A
  hgvsp: ENSP00000420334.1:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.49G>A
  hgvsp: ENSP00000405076.2:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.49G>A
  hgvsp: ENSP00000420033.1:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.49G>A
  hgvsp: ENSP00000366601.1:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.85G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.39G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.49G>A
  hgvsp: ENSP00000371842.3:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.151G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.101G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.49G>A
  hgvsp: ENSP00000419839.1:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.49G>A
  hgvsp: ENSP00000418163.1:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1103G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.49G>A
  hgvsp: ENSP00000417957.1:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu17Lys
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ

9-70490023-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70490023
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70490023
    reference: chr 9
allele count: 8
allele frequency: 6.897265234334586e-5
allele num: 115988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.46G>A
  hgvsp: ENSP00000420334.1:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.46G>A
  hgvsp: ENSP00000419839.1:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.98G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.46G>A
  hgvsp: ENSP00000371842.3:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.46G>A
  hgvsp: ENSP00000418163.1:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.46G>A
  hgvsp: ENSP00000366601.1:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.46G>A
  hgvsp: ENSP00000366612.4:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.46G>A
  hgvsp: ENSP00000417957.1:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.46G>A
  hgvsp: ENSP00000366606.1:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.46G>A
  hgvsp: ENSP00000405076.2:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.46G>A
  hgvsp: ENSP00000397999.2:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.36G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.148G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.82G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.46G>A
  hgvsp: ENSP00000420033.1:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1106G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.46G>A
  hgvsp: ENSP00000420326.1:p.Glu16Lys
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu16Lys
num of homozygotes: 1
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

9-70490032-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70490032
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70490032
    reference: chr 9
allele count: 1
allele frequency: 8.46123906384851e-6
allele num: 118186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.27G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1115G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.37G>A
  hgvsp: ENSP00000420326.1:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.37G>A
  hgvsp: ENSP00000366601.1:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.37G>A
  hgvsp: ENSP00000417957.1:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.37G>A
  hgvsp: ENSP00000405076.2:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.73G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.139G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.37G>A
  hgvsp: ENSP00000420033.1:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.37G>A
  hgvsp: ENSP00000418163.1:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.37G>A
  hgvsp: ENSP00000371842.3:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.37G>A
  hgvsp: ENSP00000366606.1:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.37G>A
  hgvsp: ENSP00000366612.4:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.37G>A
  hgvsp: ENSP00000397999.2:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.89G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.37G>A
  hgvsp: ENSP00000419839.1:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.37G>A
  hgvsp: ENSP00000420334.1:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp13Asn
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

9-70490033-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70490033
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70490033
    reference: chr 9
allele count: 1
allele frequency: 8.454228805248384e-6
allele num: 118284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.36G>A
  hgvsp: ENST00000486221.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.138G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1116G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.36G>A
  hgvsp: ENST00000377395.4:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.36G>A
  hgvsp: ENST00000480229.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.36G>A
  hgvsp: ENST00000497250.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.36G>A
  hgvsp: ENST00000377389.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.36G>A
  hgvsp: ENST00000382405.3:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.72G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.36G>A
  hgvsp: ENST00000465474.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.36G>A
  hgvsp: ENST00000377384.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.36G>A
  hgvsp: ENST00000476161.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.88G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.36G>A
  hgvsp: ENST00000469921.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.36G>A
  hgvsp: ENST00000429800.2:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.26G>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.36G>A
  hgvsp: ENST00000430059.2:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu12Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

9-70490035-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70490035
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70490035
    reference: chr 9
allele count: 3
allele frequency: 2.531004808909137e-5
allele num: 118530
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.34G>C
  hgvsp: ENSP00000420334.1:p.Glu12Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.34G>C
  hgvsp: ENSP00000405076.2:p.Glu12Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.34G>C
  hgvsp: ENSP00000366606.1:p.Glu12Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.34G>C
  hgvsp: ENSP00000366612.4:p.Glu12Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.136G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.70G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1118G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.34G>C
  hgvsp: ENSP00000419839.1:p.Glu12Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.34G>C
  hgvsp: ENSP00000371842.3:p.Glu12Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.24G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.34G>C
  hgvsp: ENSP00000366601.1:p.Glu12Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.34G>C
  hgvsp: ENSP00000420326.1:p.Glu12Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.34G>C
  hgvsp: ENSP00000417957.1:p.Glu12Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.34G>C
  hgvsp: ENSP00000418163.1:p.Glu12Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.34G>C
  hgvsp: ENSP00000397999.2:p.Glu12Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.34G>C
  hgvsp: ENSP00000420033.1:p.Glu12Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.86G>C
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu12Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ

9-70490037-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70490037
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70490037
    reference: chr 9
allele count: 1
allele frequency: 8.421903687109433e-6
allele num: 118738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.32A>T
  hgvsp: ENSP00000417957.1:p.Glu11Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.32A>T
  hgvsp: ENSP00000397999.2:p.Glu11Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.32A>T
  hgvsp: ENSP00000366601.1:p.Glu11Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.32A>T
  hgvsp: ENSP00000420033.1:p.Glu11Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.22A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.68A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.134A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.32A>T
  hgvsp: ENSP00000420334.1:p.Glu11Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.32A>T
  hgvsp: ENSP00000366612.4:p.Glu11Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.32A>T
  hgvsp: ENSP00000366606.1:p.Glu11Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.32A>T
  hgvsp: ENSP00000371842.3:p.Glu11Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.32A>T
  hgvsp: ENSP00000419839.1:p.Glu11Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.32A>T
  hgvsp: ENSP00000420326.1:p.Glu11Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1120A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.32A>T
  hgvsp: ENSP00000418163.1:p.Glu11Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.84A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.32A>T
  hgvsp: ENSP00000405076.2:p.Glu11Val
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 46875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu11Val
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

9-70490039-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70490039
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70490039
    reference: chr 9
allele count: 9
allele frequency: 7.5642965204236e-5
allele num: 118980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.30G>C
  hgvsp: ENSP00000420334.1:p.Glu10Asp
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1122G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.30G>C
  hgvsp: ENSP00000366601.1:p.Glu10Asp
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.30G>C
  hgvsp: ENSP00000366606.1:p.Glu10Asp
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.30G>C
  hgvsp: ENSP00000418163.1:p.Glu10Asp
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.20G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.30G>C
  hgvsp: ENSP00000371842.3:p.Glu10Asp
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.30G>C
  hgvsp: ENSP00000417957.1:p.Glu10Asp
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.30G>C
  hgvsp: ENSP00000420033.1:p.Glu10Asp
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.30G>C
  hgvsp: ENSP00000405076.2:p.Glu10Asp
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.30G>C
  hgvsp: ENSP00000366612.4:p.Glu10Asp
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.30G>C
  hgvsp: ENSP00000397999.2:p.Glu10Asp
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.30G>C
  hgvsp: ENSP00000420326.1:p.Glu10Asp
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.82G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.30G>C
  hgvsp: ENSP00000419839.1:p.Glu10Asp
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.132G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.66G>C
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9532
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu10Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/9-70490041-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70490041
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70490041
    reference: chr 9
allele count: 1
allele frequency: 8.395318770253707e-6
allele num: 119114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.28G>T
  hgvsp: ENSP00000420033.1:p.Glu10Ter
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.28G>T
  hgvsp: ENSP00000397999.2:p.Glu10Ter
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.28G>T
  hgvsp: ENSP00000371842.3:p.Glu10Ter
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.28G>T
  hgvsp: ENSP00000420334.1:p.Glu10Ter
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.18G>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.28G>T
  hgvsp: ENSP00000405076.2:p.Glu10Ter
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.28G>T
  hgvsp: ENSP00000418163.1:p.Glu10Ter
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.28G>T
  hgvsp: ENSP00000366601.1:p.Glu10Ter
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.80G>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.130G>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.28G>T
  hgvsp: ENSP00000419839.1:p.Glu10Ter
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.28G>T
  hgvsp: ENSP00000366606.1:p.Glu10Ter
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1124G>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.28G>T
  hgvsp: ENSP00000420326.1:p.Glu10Ter
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.28G>T
  hgvsp: ENSP00000417957.1:p.Glu10Ter
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.28G>T
  hgvsp: ENSP00000366612.4:p.Glu10Ter
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.64G>T
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 9548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu10Ter
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

9-70490043-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70490043
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70490043
    reference: chr 9
allele count: 1
allele frequency: 8.381105635455429e-6
allele num: 119316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.26A>T
  hgvsp: ENSP00000420334.1:p.Asp9Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.26A>T
  hgvsp: ENSP00000419839.1:p.Asp9Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.26A>T
  hgvsp: ENSP00000366601.1:p.Asp9Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.26A>T
  hgvsp: ENSP00000418163.1:p.Asp9Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.78A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.26A>T
  hgvsp: ENSP00000420033.1:p.Asp9Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.26A>T
  hgvsp: ENSP00000397999.2:p.Asp9Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.26A>T
  hgvsp: ENSP00000405076.2:p.Asp9Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.26A>T
  hgvsp: ENSP00000417957.1:p.Asp9Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.26A>T
  hgvsp: ENSP00000371842.3:p.Asp9Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.62A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.26A>T
  hgvsp: ENSP00000366612.4:p.Asp9Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.26A>T
  hgvsp: ENSP00000366606.1:p.Asp9Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.26A>T
  hgvsp: ENSP00000420326.1:p.Asp9Val
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1126A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.16A>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.128A>T
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp9Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/9-70490045-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70490045
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70490045
    reference: chr 9
allele count: 2
allele frequency: 1.672352665730149e-5
allele num: 119592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.76G>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1128G>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.24G>T
  hgvsp: ENST00000377389.1:c.24G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.60G>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.24G>T
  hgvsp: ENST00000497250.1:c.24G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.24G>T
  hgvsp: ENST00000382405.3:c.24G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.24G>T
  hgvsp: ENST00000377384.1:c.24G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.24G>T
  hgvsp: ENST00000480229.1:c.24G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.24G>T
  hgvsp: ENST00000486221.1:c.24G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.24G>T
  hgvsp: ENST00000465474.1:c.24G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.24G>T
  hgvsp: ENST00000429800.2:c.24G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.24G>T
  hgvsp: ENST00000476161.1:c.24G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.14G>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.24G>T
  hgvsp: ENST00000377395.4:c.24G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.24G>T
  hgvsp: ENST00000469921.1:c.24G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.24G>T
  hgvsp: ENST00000430059.2:c.24G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.126G>T
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 9587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val8Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

9-70490046-ACAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70490046
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70490043
    reference: chr 9
allele count: 13
allele frequency: 1.085921446113237e-4
allele num: 119714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.122_124delCTG
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.72_74delCTG
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.56_58delCTG
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.20_22delCTG
  hgvsp: ENSP00000417957.1:p.Ser7_Val8delinsLeu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.20_22delCTG
  hgvsp: ENSP00000405076.2:p.Ser7_Val8delinsLeu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.20_22delCTG
  hgvsp: ENSP00000366612.4:p.Ser7_Val8delinsLeu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.20_22delCTG
  hgvsp: ENSP00000397999.2:p.Ser7_Val8delinsLeu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.20_22delCTG
  hgvsp: ENSP00000366606.1:p.Ser7_Val8delinsLeu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.20_22delCTG
  hgvsp: ENSP00000419839.1:p.Ser7_Val8delinsLeu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.20_22delCTG
  hgvsp: ENSP00000418163.1:p.Ser7_Val8delinsLeu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.20_22delCTG
  hgvsp: ENSP00000366601.1:p.Ser7_Val8delinsLeu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.20_22delCTG
  hgvsp: ENSP00000371842.3:p.Ser7_Val8delinsLeu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1132_268-1130delCTG
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.20_22delCTG
  hgvsp: ENSP00000420334.1:p.Ser7_Val8delinsLeu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.20_22delCTG
  hgvsp: ENSP00000420326.1:p.Ser7_Val8delinsLeu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.10_12delCTG
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.20_22delCTG
  hgvsp: ENSP00000420033.1:p.Ser7_Val8delinsLeu
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser7_Val8delinsLeu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: ACAG
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

9-70490049-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70490049
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70490049
    reference: chr 9
allele count: 3
allele frequency: 2.510754398004787e-5
allele num: 119486
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.20C>T
  hgvsp: ENSP00000420326.1:p.Ser7Phe
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.20C>T
  hgvsp: ENSP00000366612.4:p.Ser7Phe
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.122C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.20C>T
  hgvsp: ENSP00000419839.1:p.Ser7Phe
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.20C>T
  hgvsp: ENSP00000418163.1:p.Ser7Phe
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.20C>T
  hgvsp: ENSP00000420033.1:p.Ser7Phe
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.20C>T
  hgvsp: ENSP00000366606.1:p.Ser7Phe
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.20C>T
  hgvsp: ENSP00000397999.2:p.Ser7Phe
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.20C>T
  hgvsp: ENSP00000420334.1:p.Ser7Phe
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.20C>T
  hgvsp: ENSP00000366601.1:p.Ser7Phe
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.10C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.20C>T
  hgvsp: ENSP00000371842.3:p.Ser7Phe
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1132C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.20C>T
  hgvsp: ENSP00000417957.1:p.Ser7Phe
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.72C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.20C>T
  hgvsp: ENSP00000405076.2:p.Ser7Phe
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.56C>T
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser7Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

9-70490050-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70490050
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70490050
    reference: chr 9
allele count: 1
allele frequency: 8.370302167908262e-6
allele num: 119470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.19T>A
  hgvsp: ENSP00000366606.1:p.Ser7Thr
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.19T>A
  hgvsp: ENSP00000420334.1:p.Ser7Thr
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.19T>A
  hgvsp: ENSP00000420326.1:p.Ser7Thr
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.55T>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.121T>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.19T>A
  hgvsp: ENSP00000418163.1:p.Ser7Thr
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.19T>A
  hgvsp: ENSP00000417957.1:p.Ser7Thr
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.19T>A
  hgvsp: ENSP00000366601.1:p.Ser7Thr
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.19T>A
  hgvsp: ENSP00000371842.3:p.Ser7Thr
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1133T>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.19T>A
  hgvsp: ENSP00000397999.2:p.Ser7Thr
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.19T>A
  hgvsp: ENSP00000366612.4:p.Ser7Thr
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.19T>A
  hgvsp: ENSP00000420033.1:p.Ser7Thr
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.19T>A
  hgvsp: ENSP00000419839.1:p.Ser7Thr
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.19T>A
  hgvsp: ENSP00000405076.2:p.Ser7Thr
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.9T>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.71T>A
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9580
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser7Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

9-70490051-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70490051
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70490051
    reference: chr 9
allele count: 4
allele frequency: 3.349073981044241e-5
allele num: 119436
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.70A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.18A>G
  hgvsp: ENST00000377384.1:c.18A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.18A>G
  hgvsp: ENST00000465474.1:c.18A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.18A>G
  hgvsp: ENST00000469921.1:c.18A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.18A>G
  hgvsp: ENST00000480229.1:c.18A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.18A>G
  hgvsp: ENST00000476161.1:c.18A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.18A>G
  hgvsp: ENST00000430059.2:c.18A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.18A>G
  hgvsp: ENST00000377389.1:c.18A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.18A>G
  hgvsp: ENST00000377395.4:c.18A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1134A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.18A>G
  hgvsp: ENST00000429800.2:c.18A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.18A>G
  hgvsp: ENST00000382405.3:c.18A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.8A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.18A>G
  hgvsp: ENST00000497250.1:c.18A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.18A>G
  hgvsp: ENST00000486221.1:c.18A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.120A>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.54A>G
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 9613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly6Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/9-70490055-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70490055
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70490055
    reference: chr 9
allele count: 43
allele frequency: 3.719079743988929e-4
allele num: 115620
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.14T>G
  hgvsp: ENSP00000420334.1:p.Val5Gly
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.14T>G
  hgvsp: ENSP00000405076.2:p.Val5Gly
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.14T>G
  hgvsp: ENSP00000366612.4:p.Val5Gly
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.14T>G
  hgvsp: ENSP00000420033.1:p.Val5Gly
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.14T>G
  hgvsp: ENSP00000366601.1:p.Val5Gly
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.66T>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.50T>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.4T>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.14T>G
  hgvsp: ENSP00000420326.1:p.Val5Gly
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1138T>G
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.14T>G
  hgvsp: ENSP00000371842.3:p.Val5Gly
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.14T>G
  hgvsp: ENSP00000397999.2:p.Val5Gly
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.14T>G
  hgvsp: ENSP00000418163.1:p.Val5Gly
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.14T>G
  hgvsp: ENSP00000417957.1:p.Val5Gly
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.14T>G
  hgvsp: ENSP00000419839.1:p.Val5Gly
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.14T>G
  hgvsp: ENSP00000366606.1:p.Val5Gly
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.116T>G
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val5Gly
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

9-70490056-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70490056
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70490056
    reference: chr 9
allele count: 1
allele frequency: 8.300408380092301e-6
allele num: 120476
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.13G>C
  hgvsp: ENSP00000420033.1:p.Val5Leu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.13G>C
  hgvsp: ENSP00000419839.1:p.Val5Leu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.13G>C
  hgvsp: ENSP00000366606.1:p.Val5Leu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.13G>C
  hgvsp: ENSP00000418163.1:p.Val5Leu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.13G>C
  hgvsp: ENSP00000417957.1:p.Val5Leu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.65G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.13G>C
  hgvsp: ENSP00000366612.4:p.Val5Leu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.13G>C
  hgvsp: ENSP00000405076.2:p.Val5Leu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.13G>C
  hgvsp: ENSP00000366601.1:p.Val5Leu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.13G>C
  hgvsp: ENSP00000397999.2:p.Val5Leu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.13G>C
  hgvsp: ENSP00000420334.1:p.Val5Leu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.115G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.13G>C
  hgvsp: ENSP00000371842.3:p.Val5Leu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.13G>C
  hgvsp: ENSP00000420326.1:p.Val5Leu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.49G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.3G>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1139G>C
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9876
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val5Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

9-70490057-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70490057
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70490057
    reference: chr 9
allele count: 6
allele frequency: 4.965983016338084e-5
allele num: 120822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.64T>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.12T>A
  hgvsp: ENST00000377384.1:c.12T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.12T>A
  hgvsp: ENST00000486221.1:c.12T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.114T>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1140T>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.12T>A
  hgvsp: ENST00000476161.1:c.12T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.12T>A
  hgvsp: ENST00000469921.1:c.12T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.12T>A
  hgvsp: ENST00000430059.2:c.12T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.12T>A
  hgvsp: ENST00000377389.1:c.12T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.12T>A
  hgvsp: ENST00000429800.2:c.12T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.12T>A
  hgvsp: ENST00000382405.3:c.12T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.12T>A
  hgvsp: ENST00000480229.1:c.12T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.12T>A
  hgvsp: ENST00000377395.4:c.12T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.48T>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000382404
  gene symbol: CBWD5
  hgvsc: ENST00000382404.2:n.2T>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.12T>A
  hgvsp: ENST00000465474.1:c.12T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.12T>A
  hgvsp: ENST00000497250.1:c.12T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala4Ala
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

9-70490061-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70490061
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70490061
    reference: chr 9
allele count: 5
allele frequency: 4.138045187453447e-5
allele num: 120830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.8C>T
  hgvsp: ENSP00000366601.1:p.Pro3Leu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.8C>T
  hgvsp: ENSP00000366606.1:p.Pro3Leu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.8C>T
  hgvsp: ENSP00000420326.1:p.Pro3Leu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.110C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.8C>T
  hgvsp: ENSP00000418163.1:p.Pro3Leu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.8C>T
  hgvsp: ENSP00000366612.4:p.Pro3Leu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.8C>T
  hgvsp: ENSP00000419839.1:p.Pro3Leu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.8C>T
  hgvsp: ENSP00000420334.1:p.Pro3Leu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.8C>T
  hgvsp: ENSP00000420033.1:p.Pro3Leu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.8C>T
  hgvsp: ENSP00000371842.3:p.Pro3Leu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.8C>T
  hgvsp: ENSP00000397999.2:p.Pro3Leu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.8C>T
  hgvsp: ENSP00000405076.2:p.Pro3Leu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1144C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.60C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.8C>T
  hgvsp: ENSP00000417957.1:p.Pro3Leu
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.44C>T
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9898
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro3Leu
num of homozygotes: 1
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

9-70490061-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70490061
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70490061
    reference: chr 9
allele count: 1
allele frequency: 8.276090374906894e-6
allele num: 120830
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.8C>A
  hgvsp: ENSP00000417957.1:p.Pro3Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.8C>A
  hgvsp: ENSP00000366601.1:p.Pro3Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.8C>A
  hgvsp: ENSP00000405076.2:p.Pro3Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.8C>A
  hgvsp: ENSP00000371842.3:p.Pro3Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.8C>A
  hgvsp: ENSP00000366612.4:p.Pro3Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.8C>A
  hgvsp: ENSP00000397999.2:p.Pro3Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.8C>A
  hgvsp: ENSP00000420334.1:p.Pro3Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.8C>A
  hgvsp: ENSP00000366606.1:p.Pro3Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.110C>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1144C>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.44C>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.8C>A
  hgvsp: ENSP00000418163.1:p.Pro3Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.60C>A
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.8C>A
  hgvsp: ENSP00000419839.1:p.Pro3Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.8C>A
  hgvsp: ENSP00000420033.1:p.Pro3Gln
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.8C>A
  hgvsp: ENSP00000420326.1:p.Pro3Gln
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro3Gln
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

9-70490062-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70490062
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70490062
    reference: chr 9
allele count: 3
allele frequency: 2.482580559739164e-5
allele num: 120842
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.7C>T
  hgvsp: ENSP00000366612.4:p.Pro3Ser
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.43C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.7C>T
  hgvsp: ENSP00000366601.1:p.Pro3Ser
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.109C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.7C>T
  hgvsp: ENSP00000420033.1:p.Pro3Ser
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.7C>T
  hgvsp: ENSP00000366606.1:p.Pro3Ser
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.7C>T
  hgvsp: ENSP00000417957.1:p.Pro3Ser
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.7C>T
  hgvsp: ENSP00000418163.1:p.Pro3Ser
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.7C>T
  hgvsp: ENSP00000397999.2:p.Pro3Ser
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1145C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.59C>T
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.7C>T
  hgvsp: ENSP00000371842.3:p.Pro3Ser
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.7C>T
  hgvsp: ENSP00000420326.1:p.Pro3Ser
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.7C>T
  hgvsp: ENSP00000405076.2:p.Pro3Ser
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.7C>T
  hgvsp: ENSP00000419839.1:p.Pro3Ser
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.7C>T
  hgvsp: ENSP00000420334.1:p.Pro3Ser
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro3Ser
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-70490065-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70490065
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 70490065
    reference: chr 9
allele count: 1
allele frequency: 8.274446853227862e-6
allele num: 120854
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000486466
  gene symbol: CBWD5
  hgvsc: ENST00000486466.1:n.56T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366612
  ensembl transcript: ENST00000377395
  gene symbol: CBWD5
  hgvsc: ENST00000377395.4:c.4T>C
  hgvsp: ENST00000377395.4:c.4T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000464913
  gene symbol: CBWD5
  hgvsc: ENST00000464913.2:n.40T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000397999
  ensembl transcript: ENST00000430059
  gene symbol: CBWD5
  hgvsc: ENST00000430059.2:c.4T>C
  hgvsp: ENST00000430059.2:c.4T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366601
  ensembl transcript: ENST00000377384
  gene symbol: CBWD5
  hgvsc: ENST00000377384.1:c.4T>C
  hgvsp: ENST00000377384.1:c.4T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420334
  ensembl transcript: ENST00000469921
  gene symbol: CBWD5
  hgvsc: ENST00000469921.1:c.4T>C
  hgvsp: ENST00000469921.1:c.4T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000419839
  ensembl transcript: ENST00000497250
  gene symbol: CBWD5
  hgvsc: ENST00000497250.1:c.4T>C
  hgvsp: ENST00000497250.1:c.4T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000371842
  ensembl transcript: ENST00000382405
  gene symbol: CBWD5
  hgvsc: ENST00000382405.3:c.4T>C
  hgvsp: ENST00000382405.3:c.4T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000366606
  ensembl transcript: ENST00000377389
  gene symbol: CBWD5
  hgvsc: ENST00000377389.1:c.4T>C
  hgvsp: ENST00000377389.1:c.4T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420033
  ensembl transcript: ENST00000476161
  gene symbol: CBWD5
  hgvsc: ENST00000476161.1:c.4T>C
  hgvsp: ENST00000476161.1:c.4T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000420326
  ensembl transcript: ENST00000486221
  gene symbol: CBWD5
  hgvsc: ENST00000486221.1:c.4T>C
  hgvsp: ENST00000486221.1:c.4T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000405076
  ensembl transcript: ENST00000429800
  gene symbol: CBWD5
  hgvsc: ENST00000429800.2:c.4T>C
  hgvsp: ENST00000429800.2:c.4T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000417957
  ensembl transcript: ENST00000465474
  gene symbol: CBWD5
  hgvsc: ENST00000465474.1:c.4T>C
  hgvsp: ENST00000465474.1:c.4T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000377380
  gene symbol: CBWD5
  hgvsc: ENST00000377380.1:n.106T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147996
  ensembl transcript: ENST00000441808
  gene symbol: CBWD5
  hgvsc: ENST00000441808.1:n.268-1148T>C
  variant of: http://identifiers.org/hgnc/24584
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147996
  ensembl protein: ENSP00000418163
  ensembl transcript: ENST00000480229
  gene symbol: CBWD5
  hgvsc: ENST00000480229.1:c.4T>C
  hgvsp: ENST00000480229.1:c.4T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24584
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 9905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu2Leu
num of homozygotes: 0
reference allele: A

GenotypeDepth
all individuals: 28329
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 192
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2302
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 642
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6669
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5693
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11880
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 688
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 325
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5676
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29975
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1066
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1594
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11854
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2194
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1612
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.166561114629512e-4
allele num: 3158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6042
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3840
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 3.5e0

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 2.989e1

FS
type: SiteQuality
SIO_000300: 6.818e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.38e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
type: SiteQuality
SIO_000300: 8.76474e5

VQSLOD
type: SiteQuality
SIO_000300: -4.966e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

GenotypeDepth
all individuals: 192
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27829
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 323
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 82
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11472
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2104
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7179
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5641
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 652
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1647
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1609
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5667
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2192
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 213
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30042
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11495
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4924
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3930
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.568381430363864e-4
allele num: 6376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29060
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.35e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.65e-1

MQ
type: SiteQuality
SIO_000300: 2.936e1

FS
type: SiteQuality
SIO_000300: 1.7543e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

DP
type: SiteQuality
SIO_000300: 8.79638e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.383e0

QD
type: SiteQuality
SIO_000300: 3.51e0

GenotypeDepth
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11100
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 323
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 192
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27377
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5731
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2267
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 688
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 654
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 260
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10978
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5798
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1659
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 340
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1059
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30202
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1605
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 290
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2194
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3952
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3948
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5026
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3352
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.362397820163488e-4
allele num: 29360
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.701e0

DP
type: SiteQuality
SIO_000300: 8.78106e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.73e-1

FS
type: SiteQuality
SIO_000300: 9.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.34e-2

MQ
type: SiteQuality
SIO_000300: 2.638e1

QD
type: SiteQuality
SIO_000300: 3.2e0

GenotypeDepth
all individuals: 22070
bin: 7.5e0
variant carriers: 1260

GenotypeDepth
all individuals: 8698
bin: 2.25e1
variant carriers: 2271

GenotypeDepth
all individuals: 493
bin: 3.75e1
variant carriers: 293

GenotypeDepth
all individuals: 942
bin: 3.25e1
variant carriers: 550

GenotypeDepth
all individuals: 5564
bin: 2.5e0
variant carriers: 67

GenotypeDepth
all individuals: 5012
bin: 1.75e1
variant carriers: 3589

GenotypeDepth
all individuals: 156
bin: 5.75e1
variant carriers: 47

GenotypeDepth
all individuals: 336
bin: 4.25e1
variant carriers: 163

GenotypeDepth
all individuals: 2688
bin: 2.75e1
variant carriers: 1131

GenotypeDepth
all individuals: 11224
bin: 1.25e1
variant carriers: 3454

GenotypeDepth
all individuals: 77
bin: 7.75e1
variant carriers: 25

GenotypeDepth
all individuals: 1200
bin: 9.75e1
variant carriers: 748

GenotypeDepth
all individuals: 92
bin: 6.75e1
variant carriers: 20

GenotypeDepth
all individuals: 64
bin: 8.25e1
variant carriers: 22

GenotypeDepth
all individuals: 127
bin: 6.25e1
variant carriers: 33

GenotypeDepth
all individuals: 200
bin: 5.25e1
variant carriers: 71

GenotypeQuality
all individuals: 350
bin: 1.25e1
variant carriers: 75

GenotypeQuality
all individuals: 464
bin: 4.75e1
variant carriers: 353

GenotypeQuality
all individuals: 519
bin: 1.75e1
variant carriers: 73

GenotypeQuality
all individuals: 7301
bin: 6.25e1
variant carriers: 474

GenotypeQuality
all individuals: 593
bin: 5.25e1
variant carriers: 476

GenotypeQuality
all individuals: 957
bin: 2.75e1
variant carriers: 144

GenotypeQuality
all individuals: 494
bin: 3.75e1
variant carriers: 216

GenotypeQuality
all individuals: 624
bin: 7.25e1
variant carriers: 482

GenotypeQuality
all individuals: 508
bin: 8.75e1
variant carriers: 456

GenotypeQuality
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bin: 2.5e0
variant carriers: 25

GenotypeQuality
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bin: 8.25e1
variant carriers: 450

GenotypeQuality
all individuals: 404
bin: 4.25e1
variant carriers: 293

GenotypeQuality
all individuals: 696
bin: 3.25e1
variant carriers: 137

GenotypeQuality
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bin: 2.25e1
variant carriers: 76

GenotypeQuality
all individuals: 567
bin: 9.25e1
variant carriers: 477

GenotypeQuality
all individuals: 1043
bin: 6.75e1
variant carriers: 524

GenotypeQuality
all individuals: 635
bin: 5.75e1
variant carriers: 502

GenotypeQuality
all individuals: 5542
bin: 7.5e0
variant carriers: 42

GenotypeQuality
all individuals: 9529
bin: 9.75e1
variant carriers: 8075

GenotypeQuality
all individuals: 699
bin: 7.75e1
variant carriers: 533

European (Finnish)
type: Population
allele count: 914
allele frequency: 2.227095516569201e-1
allele num: 4104
num of homozygotes: 0

Latino
type: Population
allele count: 1171
allele frequency: 2.91148682247638e-1
allele num: 4022
num of homozygotes: 0

African
type: Population
allele count: 617
allele frequency: 1.173896499238965e-1
allele num: 5256
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 6904
allele frequency: 2.152656522823647e-1
allele num: 32072
num of homozygotes: 1

East Asian
type: Population
allele count: 864
allele frequency: 2.057142857142857e-1
allele num: 4200
num of homozygotes: 0

Other
type: Population
allele count: 93
allele frequency: 1.929460580912863e-1
allele num: 482
num of homozygotes: 0

South Asian
type: Population
allele count: 1881
allele frequency: 2.373202119606359e-1
allele num: 7926
num of homozygotes: 2

MQ
type: SiteQuality
SIO_000300: 2.861e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.13e-1

FS
type: SiteQuality
SIO_000300: 5.72e-1

DP
type: SiteQuality
SIO_000300: 1.013812e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.593e-1

QD
type: SiteQuality
SIO_000300: 6.33e0

VQSLOD
type: SiteQuality
SIO_000300: 2.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

GenotypeDepth
all individuals: 150
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2670
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 244
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 242
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variant carriers: 0

GenotypeDepth
all individuals: 7335
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variant carriers: 0

GenotypeDepth
all individuals: 215
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
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variant carriers: 0

GenotypeDepth
all individuals: 642
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1441
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 86
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variant carriers: 0

GenotypeDepth
all individuals: 127
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GenotypeDepth
all individuals: 71
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variant carriers: 0

GenotypeDepth
all individuals: 973
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variant carriers: 0

GenotypeDepth
all individuals: 163
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variant carriers: 0

GenotypeQuality
all individuals: 815
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variant carriers: 0

GenotypeQuality
all individuals: 824
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variant carriers: 0

GenotypeQuality
all individuals: 552
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GenotypeQuality
all individuals: 242
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variant carriers: 0

GenotypeQuality
all individuals: 2364
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variant carriers: 1

GenotypeQuality
all individuals: 229
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variant carriers: 0

GenotypeQuality
all individuals: 208
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GenotypeQuality
all individuals: 231
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GenotypeQuality
all individuals: 1414
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variant carriers: 0

GenotypeQuality
all individuals: 7641
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 234
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variant carriers: 0

GenotypeQuality
all individuals: 1026
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variant carriers: 0

GenotypeQuality
all individuals: 119
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variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.385809312638581e-4
allele num: 7216
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.517623363544814e-4
allele num: 3972
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-1

MQ
type: SiteQuality
SIO_000300: 2.888e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.62e0

DP
type: SiteQuality
SIO_000300: 8.83112e5

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

VQSLOD
type: SiteQuality
SIO_000300: -4.877e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.71e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 2.16e0

GenotypeDepth
all individuals: 23878
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2164
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1371
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 973
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
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variant carriers: 0

GenotypeDepth
all individuals: 87
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variant carriers: 0

GenotypeDepth
all individuals: 9319
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variant carriers: 0

GenotypeDepth
all individuals: 127
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variant carriers: 0

GenotypeDepth
all individuals: 101
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variant carriers: 0

GenotypeDepth
all individuals: 596
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variant carriers: 0

GenotypeDepth
all individuals: 86
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variant carriers: 0

GenotypeDepth
all individuals: 241
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variant carriers: 0

GenotypeDepth
all individuals: 57
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variant carriers: 0

GenotypeDepth
all individuals: 5107
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variant carriers: 0

GenotypeDepth
all individuals: 215
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variant carriers: 0

GenotypeDepth
all individuals: 62
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variant carriers: 0

GenotypeQuality
all individuals: 349
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variant carriers: 0

GenotypeQuality
all individuals: 198
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variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
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variant carriers: 0

GenotypeQuality
all individuals: 186
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variant carriers: 0

GenotypeQuality
all individuals: 34620
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variant carriers: 0

GenotypeQuality
all individuals: 9889
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variant carriers: 0

GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 132
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GenotypeQuality
all individuals: 6415
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 779
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 112
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variant carriers: 0

GenotypeQuality
all individuals: 189
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variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 2364
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 629
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6916
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.518648838845883e-5
allele num: 28420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5084
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3792
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.082e1

VQSLOD
type: SiteQuality
SIO_000300: -4.595e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

FS
type: SiteQuality
SIO_000300: 5.172e0

DP
type: SiteQuality
SIO_000300: 8.35938e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.822e0

QD
type: SiteQuality
SIO_000300: 2.21e0

GenotypeDepth
all individuals: 62
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 596
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 23610
bin: 7.5e0
variant carriers: 3

GenotypeDepth
all individuals: 163
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2076
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 86
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variant carriers: 0

GenotypeDepth
all individuals: 4785
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variant carriers: 6

GenotypeDepth
all individuals: 150
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variant carriers: 0

GenotypeDepth
all individuals: 9656
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variant carriers: 0

GenotypeDepth
all individuals: 241
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variant carriers: 0

GenotypeDepth
all individuals: 243
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variant carriers: 0

GenotypeDepth
all individuals: 1401
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variant carriers: 7

GenotypeDepth
all individuals: 127
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
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variant carriers: 0

GenotypeDepth
all individuals: 71
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GenotypeDepth
all individuals: 973
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variant carriers: 0

GenotypeQuality
all individuals: 10307
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GenotypeQuality
all individuals: 5994
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variant carriers: 0

GenotypeQuality
all individuals: 811
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variant carriers: 0

GenotypeQuality
all individuals: 133
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GenotypeQuality
all individuals: 1353
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 183
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variant carriers: 1

GenotypeQuality
all individuals: 34477
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GenotypeQuality
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GenotypeQuality
all individuals: 378
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GenotypeQuality
all individuals: 858
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variant carriers: 1

GenotypeQuality
all individuals: 441
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2372
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 147
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 143
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 197
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 116
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 8.75e1
variant carriers: 3

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3616
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.977848101265823e-4
allele num: 5056
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3218
num of homozygotes: 0

South Asian
type: Population
allele count: 21
allele frequency: 3.061224489795918e-3
allele num: 6860
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.857e0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.23e-2

QD
type: SiteQuality
SIO_000300: 2.87e0

MQ
type: SiteQuality
SIO_000300: 2.834e1

VQSLOD
type: SiteQuality
SIO_000300: -4.274e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.0e-1

DP
type: SiteQuality
SIO_000300: 8.29071e5

GenotypeDepth
all individuals: 973
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4263
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variant carriers: 0

GenotypeDepth
all individuals: 71
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GenotypeDepth
all individuals: 215
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variant carriers: 0

GenotypeDepth
all individuals: 14925
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GenotypeDepth
all individuals: 1366
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GenotypeDepth
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GenotypeDepth
all individuals: 23184
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 163
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GenotypeDepth
all individuals: 86
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GenotypeDepth
all individuals: 240
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GenotypeDepth
all individuals: 243
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GenotypeDepth
all individuals: 62
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GenotypeQuality
all individuals: 1350
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GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
all individuals: 143
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GenotypeQuality
all individuals: 549
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GenotypeQuality
all individuals: 179
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GenotypeQuality
all individuals: 820
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GenotypeQuality
all individuals: 11100
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GenotypeQuality
all individuals: 183
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GenotypeQuality
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GenotypeQuality
all individuals: 884
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GenotypeQuality
all individuals: 5331
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GenotypeQuality
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GenotypeQuality
all individuals: 580
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GenotypeQuality
all individuals: 2363
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variant carriers: 1

GenotypeQuality
all individuals: 67
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variant carriers: 0

GenotypeQuality
all individuals: 125
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variant carriers: 1

GenotypeQuality
all individuals: 34195
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3518
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.723311546840959e-4
allele num: 3672
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5000
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.618992472495657e-5
allele num: 27632
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.34e0

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.4e-1

MQ
type: SiteQuality
SIO_000300: 2.884e1

VQSLOD
type: SiteQuality
SIO_000300: -5.269e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.95e-1

FS
type: SiteQuality
SIO_000300: 6.262e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-2

DP
type: SiteQuality
SIO_000300: 8.1643e5

GenotypeDepth
all individuals: 163
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variant carriers: 0

GenotypeDepth
all individuals: 1853
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 561
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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
all individuals: 57
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GenotypeQuality
all individuals: 34240
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GenotypeQuality
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GenotypeQuality
all individuals: 415
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 11773
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 887
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GenotypeQuality
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GenotypeQuality
all individuals: 91
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GenotypeQuality
all individuals: 173
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GenotypeQuality
all individuals: 134
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GenotypeQuality
all individuals: 93
bin: 4.25e1
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GenotypeQuality
all individuals: 181
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GenotypeQuality
all individuals: 5010
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variant carriers: 0

GenotypeQuality
all individuals: 115
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variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

African
type: Population
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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
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3100
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3508
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6740
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 27518
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

DP
type: SiteQuality
SIO_000300: 8.054e5

MQ
type: SiteQuality
SIO_000300: 2.933e1

VQSLOD
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SIO_000300: -4.568e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-2

QD
type: SiteQuality
SIO_000300: 4.36e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4844
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 3.859215807347947e-5
allele num: 25912
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2836
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.94e-2

DP
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SIO_000300: 7.63513e5

MQ
type: SiteQuality
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BaseQRankSum
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SIO_000300: 2.45e0

FS
type: SiteQuality
SIO_000300: 6.532e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.51e-1

VQSLOD
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SIO_000300: -4.805e0

QD
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SIO_000300: 5.04e0

MQRankSum
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SIO_000300: 1.1e0

GenotypeDepth
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variant carriers: 21

GenotypeDepth
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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: 47

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 6.970260223048327e-4
allele num: 4304
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 9.624639076034649e-4
allele num: 2078
num of homozygotes: 0

South Asian
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allele count: 6
allele frequency: 1.092498179169701e-3
allele num: 5492
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 78
allele frequency: 3.635007922453164e-3
allele num: 21458
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 2.866e1

QD
type: SiteQuality
SIO_000300: 4.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

DP
type: SiteQuality
SIO_000300: 6.84867e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.28e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.793e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e-1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1358
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1892
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 1.217433649866082e-4
allele num: 16428
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.009e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

MQ
type: SiteQuality
SIO_000300: 3.045e1

FS
type: SiteQuality
SIO_000300: 7.056e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -5.35e-2

DP
type: SiteQuality
SIO_000300: 6.13729e5

QD
type: SiteQuality
SIO_000300: 1.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 7.563152321887763e-5
allele num: 13222
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

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

African
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allele frequency: 6.333122229259025e-4
allele num: 3158
num of homozygotes: 0

South Asian
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allele count: 0
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DP
type: SiteQuality
SIO_000300: 5.72138e5

ReadPosRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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FS
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SIO_000300: 9.62e-1

QD
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MQ
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MQRankSum
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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allele frequency: 1.81462869905081e-3
allele num: 7164
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DP
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MQ
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ClippingRankSum
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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MQRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 285

GenotypeQuality
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variant carriers: 21

GenotypeQuality
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GenotypeQuality
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variant carriers: 20

Latino
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allele count: 5
allele frequency: 9.803921568627451e-3
allele num: 510
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 1.694915254237288e-2
allele num: 118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.1547146780592e-4
allele num: 6554
num of homozygotes: 0

African
type: Population
allele count: 340
allele frequency: 1.841820151679307e-1
allele num: 1846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.434782608695652e-3
allele num: 184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.146788990825688e-3
allele num: 1744
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.46e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.38e-2

QD
type: SiteQuality
SIO_000300: 4.95e0

VQSLOD
type: SiteQuality
SIO_000300: -3.232e0

MQ
type: SiteQuality
SIO_000300: 2.891e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

DP
type: SiteQuality
SIO_000300: 4.60019e5

GenotypeDepth
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bin: 8.75e1
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: 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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 17
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2472
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.777777777777778e-3
allele num: 720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 374
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.531e0

MQ
type: SiteQuality
SIO_000300: 2.991e1

QD
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SIO_000300: 3.53e0

ReadPosRankSum
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SIO_000300: -1.106e0

VQSLOD
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SIO_000300: -7.4e-2

InbreedingCoeff
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SIO_000300: -3.12e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 1.16073e5

FS
type: SiteQuality
SIO_000300: 2.325e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 34
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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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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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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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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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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1046
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 952
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.16e-2

QD
type: SiteQuality
SIO_000300: 1.186e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 3.053e1

DP
type: SiteQuality
SIO_000300: 1.3555e5

VQSLOD
type: SiteQuality
SIO_000300: -4.172e0

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 6378
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
all individuals: 39
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
all individuals: 276
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variant carriers: 1

GenotypeDepth
all individuals: 910
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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: 2

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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variant carriers: 10

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 937
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variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7064
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1406
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.562011871290222e-3
allele num: 6402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e0

MQ
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SIO_000300: 2.967e1

DP
type: SiteQuality
SIO_000300: 2.38585e5

BaseQRankSum
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SIO_000300: -2.57e-1

FS
type: SiteQuality
SIO_000300: 1.9791e1

MQRankSum
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SIO_000300: 2.02e-1

QD
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.19e-2

ReadPosRankSum
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SIO_000300: 1.41e0

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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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: 3
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1616
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7022
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.278772378516624e-4
allele num: 7820
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1250
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

MQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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MQ
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DP
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FS
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 7.28e-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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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 (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1622
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.40607424071991e-4
allele num: 7112
num of homozygotes: 0

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
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VQSLOD
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FS
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InbreedingCoeff
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ClippingRankSum
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MQ
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SIO_000300: 2.994e1

BaseQRankSum
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SIO_000300: 4.07e0

DP
type: SiteQuality
SIO_000300: 2.60778e5

QD
type: SiteQuality
SIO_000300: 5.08e0

ReadPosRankSum
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SIO_000300: 4.26e0

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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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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num of homozygotes: 0

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

South Asian
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allele num: 7858
num of homozygotes: 0

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

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

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

BaseQRankSum
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QD
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FS
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MQRankSum
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ReadPosRankSum
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DP
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MQ
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -1.46e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 400
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

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

South Asian
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allele frequency: 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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1298
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.366493577480186e-4
allele num: 7318
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.121e1

FS
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SIO_000300: 7.7e0

MQ
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DP
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VQSLOD
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InbreedingCoeff
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SIO_000300: -1.27e-2

MQRankSum
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SIO_000300: -9.791e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.979e0

ReadPosRankSum
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SIO_000300: 4.13e0

QD
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SIO_000300: 3.3e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele num: 7870
num of homozygotes: 0

Other
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num of homozygotes: 0

East Asian
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allele frequency: 1.470588235294118e-2
allele num: 612
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1642
num of homozygotes: 0

FS
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ClippingRankSum
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DP
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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MQ
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GenotypeDepth
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variant carriers: 15

GenotypeDepth
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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: 7

South Asian
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allele num: 7870
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 9.772782799902272e-4
allele num: 8186
num of homozygotes: 0

Latino
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allele frequency: 9.852216748768473e-3
allele num: 406
num of homozygotes: 0

European (Finnish)
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allele frequency: 6.082725060827251e-4
allele num: 1644
num of homozygotes: 0

African
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East Asian
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Other
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allele frequency: 8.474576271186441e-3
allele num: 236
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MQ
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InbreedingCoeff
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DP
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MQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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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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MQ
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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DP
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FS
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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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GenotypeQuality
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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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South Asian
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African
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East Asian
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European (Finnish)
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Latino
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MQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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MQ
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FS
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QD
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BaseQRankSum
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VQSLOD
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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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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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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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FS
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MQRankSum
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MQ
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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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GenotypeDepth
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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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European (Finnish)
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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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European (Non-Finnish)
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ReadPosRankSum
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MQRankSum
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QD
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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DP
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MQ
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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 (Finnish)
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European (Non-Finnish)
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South Asian
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Latino
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African
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Other
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East Asian
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VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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ReadPosRankSum
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MQ
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ClippingRankSum
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QD
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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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European (Finnish)
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Latino
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South Asian
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East Asian
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African
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Other
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European (Non-Finnish)
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQ
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DP
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InbreedingCoeff
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MQRankSum
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FS
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QD
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VQSLOD
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Other
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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East Asian
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VQSLOD
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DP
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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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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 5.669999999999999e-1

MQ
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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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South Asian
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Latino
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African
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European (Finnish)
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num of homozygotes: 0

Other
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ClippingRankSum
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MQ
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ReadPosRankSum
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DP
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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African
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European (Finnish)
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Other
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European (Non-Finnish)
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InbreedingCoeff
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QD
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VQSLOD
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FS
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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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MQ
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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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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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East Asian
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Other
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Latino
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European (Non-Finnish)
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African
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South Asian
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European (Finnish)
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MQ
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BaseQRankSum
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DP
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FS
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QD
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Non-Finnish)
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East Asian
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Other
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South Asian
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VQSLOD
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ClippingRankSum
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FS
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MQ
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QD
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DP
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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South Asian
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ClippingRankSum
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QD
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ReadPosRankSum
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DP
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MQRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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MQ
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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: 1.792114695340502e-3
allele num: 558
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 4.394812680115274e-2
allele num: 1388
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.002402883460152e-4
allele num: 4994
num of homozygotes: 0

Latino
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allele frequency: 5.235602094240838e-3
allele num: 382
num of homozygotes: 0

European (Finnish)
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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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BaseQRankSum
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SIO_000300: 2.05e0

FS
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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DP
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QD
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ClippingRankSum
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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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GenotypeDepth
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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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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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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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Latino
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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QD
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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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GenotypeDepth
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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

Latino
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num of homozygotes: 0

East Asian
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African
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num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.288175720110483e-5
allele num: 60824
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FS
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SIO_000300: 1.2512e1

DP
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InbreedingCoeff
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SIO_000300: 2.2e-3

MQRankSum
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MQ
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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QD
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BaseQRankSum
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SIO_000300: 6.02e-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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GenotypeDepth
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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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num of homozygotes: 0

East Asian
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European (Non-Finnish)
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South Asian
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Other
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European (Finnish)
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African
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BaseQRankSum
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MQ
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FS
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VQSLOD
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QD
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DP
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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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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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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European (Non-Finnish)
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allele num: 62442
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East Asian
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allele num: 8514
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African
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European (Finnish)
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allele frequency: 7.332878581173261e-3
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Other
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South Asian
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FS
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VQSLOD
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InbreedingCoeff
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DP
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ClippingRankSum
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MQRankSum
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QD
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MQ
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BaseQRankSum
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ReadPosRankSum
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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: 0

African
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allele frequency: 2.287282708142727e-4
allele num: 8744
num of homozygotes: 0

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

East Asian
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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

Latino
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num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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DP
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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QD
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ClippingRankSum
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FS
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VQSLOD
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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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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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num of homozygotes: 0

Other
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African
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allele frequency: 1.143641354071363e-4
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 4.744283138817725e-5
allele num: 63234
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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ReadPosRankSum
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QD
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VQSLOD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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DP
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MQ
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SIO_000300: 2.398e1

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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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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allele count: 8
allele frequency: 4.886391399951136e-4
allele num: 16372
num of homozygotes: 1

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8880
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6180
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63890
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
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SIO_000300: -1.181e0

DP
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SIO_000300: 1.339128e6

BaseQRankSum
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SIO_000300: -4.7e0

InbreedingCoeff
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SIO_000300: 6.0e-3

FS
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SIO_000300: 0.0e0

MQ
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SIO_000300: 2.277e1

VQSLOD
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ClippingRankSum
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SIO_000300: 2.88e-1

QD
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SIO_000300: 4.25e0

ReadPosRankSum
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SIO_000300: -8.699999999999999e-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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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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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.538130248869474e-5
allele num: 65014
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6422
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Latino
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num of homozygotes: 0

South Asian
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allele count: 0
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MQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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QD
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DP
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FS
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MQ
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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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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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European (Non-Finnish)
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allele frequency: 1.536900992838042e-5
allele num: 65066
num of homozygotes: 0

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

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

Other
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FS
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ReadPosRankSum
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DP
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VQSLOD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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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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GenotypeQuality
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Other
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European (Non-Finnish)
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allele num: 65204
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 65888
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East Asian
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African
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Other
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Latino
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allele num: 11450
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South Asian
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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DP
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MQ
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ClippingRankSum
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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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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 frequency: 4.564542632828191e-5
allele num: 65724
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East Asian
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Latino
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South Asian
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African
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European (Finnish)
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Other
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DP
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VQSLOD
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MQRankSum
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FS
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QD
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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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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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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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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South Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
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VQSLOD
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ReadPosRankSum
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FS
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MQRankSum
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DP
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QD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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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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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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European (Finnish)
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allele count: 1
allele frequency: 1.553277415346381e-4
allele num: 6438
num of homozygotes: 0

African
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 65726
num of homozygotes: 0

East Asian
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Latino
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Other
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South Asian
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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MQRankSum
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FS
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MQ
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ClippingRankSum
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QD
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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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GenotypeDepth
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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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allele count: 3
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East Asian
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South Asian
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European (Non-Finnish)
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allele frequency: 3.30854550037812e-4
allele num: 63472
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Latino
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African
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European (Finnish)
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allele num: 5650
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VQSLOD
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FS
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ReadPosRankSum
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QD
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BaseQRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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East Asian
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African
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Latino
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DP
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VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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ReadPosRankSum
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MQ
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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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GenotypeDepth
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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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East Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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South Asian
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QD
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InbreedingCoeff
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FS
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MQ
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VQSLOD
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ReadPosRankSum
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MQRankSum
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DP
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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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GenotypeQuality
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Latino
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allele num: 11490
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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Other
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MQRankSum
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DP
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MQ
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ReadPosRankSum
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QD
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VQSLOD
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FS
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ClippingRankSum
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BaseQRankSum
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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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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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Other
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East Asian
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Latino
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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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MQ
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ReadPosRankSum
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QD
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MQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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East Asian
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DP
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VQSLOD
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QD
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MQ
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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