22-26291140-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291140
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291140
    reference: chr 22
allele count: 1
allele frequency: 9.925952395132313e-6
allele num: 100746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2019C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609809
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609809.1:n.601+1823G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609820
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609820.1:n.633+165G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.473-2533G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4564C>T
  hgvsp: ENSP00000386096.2:p.Arg1522Cys
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.423G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.279-2533G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608921
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608921.1:n.577G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.728G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4561C>T
  hgvsp: ENSP00000441229.1:p.Arg1521Cys
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4561C>T
  hgvsp: ENSP00000334563.7:p.Arg1521Cys
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.489-2533G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.471G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.201G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.174-2533G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.483G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.310G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.449G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.534-2533G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3132C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.509G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.695G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.396-2533G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg1521Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

22-26291140-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291140
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291140
    reference: chr 22
allele count: 1
allele frequency: 9.925952395132313e-6
allele num: 100746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.201G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4564C>G
  hgvsp: ENSP00000386096.2:p.Arg1522Gly
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.534-2533G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.545G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609820
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609820.1:n.633+165G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4561C>G
  hgvsp: ENSP00000334563.7:p.Arg1521Gly
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.509G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608921
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608921.1:n.577G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.566-2533G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.483G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.437-2533G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2019C>G
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4561C>G
  hgvsp: ENSP00000441229.1:p.Arg1521Gly
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.728G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.473-2533G>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.396-2533G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597614
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597614.2:n.575+1100G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.279-2533G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.454-2533G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.310G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.423G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.449G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.410G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg1521Gly
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

22-26291143-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291143
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291143
    reference: chr 22
allele count: 1
allele frequency: 9.970686182623088e-6
allele num: 100294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.454-2536A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.446A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3135T>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609820
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609820.1:n.633+162A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4567T>C
  hgvsp: ENSP00000386096.2:p.Phe1523Leu
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.468A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.473-2536A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.566-2536A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.407A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4564T>C
  hgvsp: ENSP00000334563.7:p.Phe1522Leu
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.432-2536A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2022T>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.725A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.542A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4564T>C
  hgvsp: ENSP00000441229.1:p.Phe1522Leu
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609809
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609809.1:n.601+1820A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.420A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.437-2536A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.531-2536A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608921
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608921.1:n.574A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.692A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.279-2536A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.198A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe1522Leu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

22-26291145-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291145
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291145
    reference: chr 22
allele count: 119
allele frequency: 1.1945632315445e-3
allele num: 99618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.690G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4566C>T
  hgvsp: ENST00000335473.7:c.4566C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4569C>T
  hgvsp: ENST00000407587.2:c.4569C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.466G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.454-2538G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.504G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609809
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609809.1:n.601+1818G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.196G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.478G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.418G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.444G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3137C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.305G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.540G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.566-2538G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609820
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609820.1:n.633+160G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2024C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4566C>T
  hgvsp: ENST00000536101.1:c.4566C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.432-2538G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.405G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.279-2538G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.723G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597614
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597614.2:n.575+1095G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe1522Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

22-26291147-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291147
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291147
    reference: chr 22
allele count: 1
allele frequency: 1.005368668690809e-5
allele num: 99466
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2026A>G
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.464T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.403T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.502T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.303T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.476T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.688T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4568A>G
  hgvsp: ENSP00000441229.1:p.Asp1523Gly
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.174-2540T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.432-2540T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4568A>G
  hgvsp: ENSP00000334563.7:p.Asp1523Gly
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.454-2540T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.194T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3139A>G
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.534-2540T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4571A>G
  hgvsp: ENSP00000386096.2:p.Asp1524Gly
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.489-2540T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.721T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.279-2540T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609820
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609820.1:n.633+158T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.531-2540T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.416T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597614
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597614.2:n.575+1093T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp1523Gly
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

22-26291157-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291157
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291157
    reference: chr 22
allele count: 1
allele frequency: 1.042014004668223e-5
allele num: 95968
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4578G>C
  hgvsp: ENSP00000334563.7:p.Gln1526His
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.396-2550C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.406C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4581G>C
  hgvsp: ENSP00000386096.2:p.Gln1527His
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4578G>C
  hgvsp: ENSP00000441229.1:p.Gln1526His
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.492C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3149G>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.437-2550C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.454-2550C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.678C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.528C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.711C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.466C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.184C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.174-2550C>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2036G>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.432-2550C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.454C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.566-2550C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.293C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609809
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609809.1:n.601+1806C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609820
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609820.1:n.633+148C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.393C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln1526His
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

22-26291159-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291159
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291159
    reference: chr 22
allele count: 1
allele frequency: 1.042296387400721e-5
allele num: 95942
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.534-2552A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.709A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2038T>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.489-2552A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.676A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.404A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.566-2552A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608921
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608921.1:n.558A>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.396-2552A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.391A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4580T>C
  hgvsp: ENSP00000334563.7:p.Met1527Thr
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.291A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.437-2552A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.182A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4580T>C
  hgvsp: ENSP00000441229.1:p.Met1527Thr
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.526A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.452A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609820
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609820.1:n.633+146A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.464A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4583T>C
  hgvsp: ENSP00000386096.2:p.Met1528Thr
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.430A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.174-2552A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.473-2552A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met1527Thr
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

22-26291161-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291161
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291161
    reference: chr 22
allele count: 2
allele frequency: 2.100222623598102e-5
allele num: 95228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.428C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.279-2554C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.534-2554C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.707C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.674C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4582G>A
  hgvsp: ENSP00000334563.7:p.Glu1528Lys
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.524C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.454-2554C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.396-2554C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2040G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4582G>A
  hgvsp: ENSP00000441229.1:p.Glu1528Lys
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4585G>A
  hgvsp: ENSP00000386096.2:p.Glu1529Lys
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609820
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609820.1:n.633+144C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.462C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.489-2554C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.450C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3153G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.432-2554C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597614
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597614.2:n.575+1079C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609809
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609809.1:n.601+1802C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.180C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.531-2554C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.389C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu1528Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/22-26291165-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291165
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291165
    reference: chr 22
allele count: 3
allele frequency: 3.185186758116918e-5
allele num: 94186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.566-2558T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.398T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.454-2558T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4586A>C
  hgvsp: ENSP00000334563.7:p.Asn1529Thr
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3157A>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.176T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4586A>C
  hgvsp: ENSP00000441229.1:p.Asn1529Thr
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.520T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609820
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609820.1:n.633+140T>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.396-2558T>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2044A>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.473-2558T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.458T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.446T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.424T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.484T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4589A>C
  hgvsp: ENSP00000386096.2:p.Asn1530Thr
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.534-2558T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.437-2558T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.285T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.489-2558T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.670T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.703T>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn1529Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

22-26291166-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291166
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291166
    reference: chr 22
allele count: 11
allele frequency: 1.17528901425305e-4
allele num: 93594
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.279-2559G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608921
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608921.1:n.551G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.384G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.473-2559G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.483G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.445G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609820
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609820.1:n.633+139G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.457G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4587C>T
  hgvsp: ENST00000536101.1:c.4587C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.702G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.396-2559G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4590C>T
  hgvsp: ENST00000407587.2:c.4590C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2045C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.423G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.174-2559G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3158C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.519G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.175G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.669G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4587C>T
  hgvsp: ENST00000335473.7:c.4587C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.534-2559G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.432-2559G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.437-2559G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn1529Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

22-26291167-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291167
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291167
    reference: chr 22
allele count: 1
allele frequency: 1.077562983556389e-5
allele num: 92802
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.432-2560C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.473-2560C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4591G>A
  hgvsp: ENSP00000386096.2:p.Glu1531Lys
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4588G>A
  hgvsp: ENSP00000334563.7:p.Glu1530Lys
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.174C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.701C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.283C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.454-2560C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3159G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.174-2560C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.437-2560C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4588G>A
  hgvsp: ENSP00000441229.1:p.Glu1530Lys
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608921
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608921.1:n.550C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.518C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.668C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.566-2560C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2046G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.422C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.482C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597614
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597614.2:n.575+1073C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.456C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609820
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609820.1:n.633+138C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.396C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu1530Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

22-26291182-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291182
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291182
    reference: chr 22
allele count: 13
allele frequency: 1.483171705647462e-4
allele num: 87650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4606C>T
  hgvsp: ENSP00000386096.2:p.Arg1536Cys
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.396-2575G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.407G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609820
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609820.1:n.633+123G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.381G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4603C>T
  hgvsp: ENSP00000334563.7:p.Arg1535Cys
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.429G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.159G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3174C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4603C>T
  hgvsp: ENSP00000441229.1:p.Arg1535Cys
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.686G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.503G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.174-2575G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.368G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.489-2575G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.566-2575G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.279-2575G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2061C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597614
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597614.2:n.575+1058G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.268G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.437-2575G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.531-2575G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608921
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608921.1:n.535G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg1535Cys
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ

22-26291183-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291183
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291183
    reference: chr 22
allele count: 5
allele frequency: 5.726458528987333e-5
allele num: 87314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609820
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609820.1:n.633+122C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3175G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.466C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.502C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608921
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608921.1:n.534C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4604G>A
  hgvsp: ENSP00000334563.7:p.Arg1535His
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597614
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597614.2:n.575+1057C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.279-2576C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.652C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.685C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.437-2576C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4607G>A
  hgvsp: ENSP00000386096.2:p.Arg1536His
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.440C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.174-2576C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.428C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.158C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.454-2576C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4604G>A
  hgvsp: ENSP00000441229.1:p.Arg1535His
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.489-2576C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.367C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.566-2576C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.432-2576C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.267C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg1535His
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

22-26291196-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291196
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291196
    reference: chr 22
allele count: 2
allele frequency: 2.445226917057903e-5
allele num: 81792
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.639G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.672G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.489G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.427G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.473-2589G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4617C>T
  hgvsp: ENST00000335473.7:c.4617C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.254G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4617C>T
  hgvsp: ENST00000536101.1:c.4617C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.454-2589G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.415G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.531-2589G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.396-2589G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.367G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597614
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597614.2:n.575+1044G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.145G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609809
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609809.1:n.601+1767G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.174-2589G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3188C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.489-2589G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2075C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.393G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.279-2589G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.534-2589G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys1539Cys
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

22-26291197-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291197
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291197
    reference: chr 22
allele count: 2
allele frequency: 2.443255393486281e-5
allele num: 81858
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4621G>A
  hgvsp: ENSP00000386096.2:p.Glu1541Lys
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4618G>A
  hgvsp: ENSP00000334563.7:p.Glu1540Lys
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.638C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4618G>A
  hgvsp: ENSP00000441229.1:p.Glu1540Lys
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.473-2590C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2076G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.144C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.414C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609820
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609820.1:n.633+108C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.534-2590C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.366C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.392C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.452C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.396-2590C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.426C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597614
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597614.2:n.575+1043C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3189G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.174-2590C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.489-2590C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.671C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.253C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.353C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609809
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609809.1:n.601+1766C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu1540Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

22-26291211-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291211
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291211
    reference: chr 22
allele count: 62
allele frequency: 8.239202657807309e-4
allele num: 75250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.239G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4635C>G
  hgvsp: ENSP00000386096.2:p.Asp1545Glu
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.412G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.130G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4632C>G
  hgvsp: ENSP00000334563.7:p.Asp1544Glu
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.438G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.454-2604G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609820
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609820.1:n.633+94G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.531-2604G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3203C>G
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4632C>G
  hgvsp: ENSP00000441229.1:p.Asp1544Glu
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.400G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.339G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.279-2604G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608921
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608921.1:n.506G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.378G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609809
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609809.1:n.601+1752G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.174-2604G>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.396-2604G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597614
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597614.2:n.575+1029G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.352G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2090C>G
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.624G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp1544Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

22-26291213-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291213
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291213
    reference: chr 22
allele count: 4
allele frequency: 5.389382915656157e-5
allele num: 74220
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4634C>T
  hgvsp: ENSP00000334563.7:p.Ser1545Leu
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.454-2606G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.279-2606G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.410G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4637C>T
  hgvsp: ENSP00000386096.2:p.Ser1546Leu
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.396-2606G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3205C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2092C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.489-2606G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.376G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609809
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609809.1:n.601+1750G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.337G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.655G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609820
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609820.1:n.633+92G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4634C>T
  hgvsp: ENSP00000441229.1:p.Ser1545Leu
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.473-2606G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.437-2606G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.472G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597614
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597614.2:n.575+1027G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.566-2606G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.174-2606G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608921
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608921.1:n.504G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.237G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser1545Leu
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

22-26291214-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291214
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291214
    reference: chr 22
allele count: 1
allele frequency: 1.363772740910455e-5
allele num: 73326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3206G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.279-2607C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.437-2607C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.336C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4635G>A
  hgvsp: ENST00000335473.7:c.4635G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2093G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.621C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.174-2607C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609809
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609809.1:n.601+1749C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.397C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.349C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.654C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.409C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.471C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.236C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4635G>A
  hgvsp: ENST00000536101.1:c.4635G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.435C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.375C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4638G>A
  hgvsp: ENST00000407587.2:c.4638G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.489-2607C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.531-2607C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.454-2607C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.127C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser1545Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

22-26291214-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291214
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291214
    reference: chr 22
allele count: 1
allele frequency: 1.363772740910455e-5
allele num: 73326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.236C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609820
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609820.1:n.633+91C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608921
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608921.1:n.503C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.397C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609809
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609809.1:n.601+1749C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.349C>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2093G>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4635G>C
  hgvsp: ENST00000536101.1:c.4635G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.336C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.435C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.654C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.437-2607C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.409C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.454-2607C>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4635G>C
  hgvsp: ENST00000335473.7:c.4635G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.375C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.127C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3206G>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.473-2607C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.489-2607C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597614
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597614.2:n.575+1026C>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.396-2607C>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4638G>C
  hgvsp: ENST00000407587.2:c.4638G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser1545Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

22-26291215-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291215
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291215
    reference: chr 22
allele count: 1
allele frequency: 1.36139624799194e-5
allele num: 73454
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.473-2608C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.126C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608921
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608921.1:n.502C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4636G>A
  hgvsp: ENSP00000441229.1:p.Glu1546Lys
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4639G>A
  hgvsp: ENSP00000386096.2:p.Glu1547Lys
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.432-2608C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.531-2608C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.396C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597614
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597614.2:n.575+1025C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.348C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.434C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4636G>A
  hgvsp: ENSP00000334563.7:p.Glu1546Lys
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2094G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3207G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.566-2608C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.470C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.335C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.408C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.235C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.653C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.174-2608C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.374C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609809
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609809.1:n.601+1748C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu1546Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

22-26291225-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291225
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291225
    reference: chr 22
allele count: 1
allele frequency: 1.443459684171021e-5
allele num: 69278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.364G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.460G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.398G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.610G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.566-2618G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.534-2618G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.531-2618G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.424G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4646C>T
  hgvsp: ENSP00000441229.1:p.Ala1549Val
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4646C>T
  hgvsp: ENSP00000334563.7:p.Ala1549Val
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.643G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609820
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609820.1:n.633+80G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.473-2618G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.386G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.325G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.116G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.432-2618G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3217C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4649C>T
  hgvsp: ENSP00000386096.2:p.Ala1550Val
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.489-2618G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.225G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609809
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609809.1:n.601+1738G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.396-2618G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala1549Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/22-26291227-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291227
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291227
    reference: chr 22
allele count: 1
allele frequency: 1.453446120752304e-5
allele num: 68802
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.534-2620T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.432-2620T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.323T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.489-2620T>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4648A>C
  hgvsp: ENST00000335473.7:c.4648A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.223T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.114T>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4651A>C
  hgvsp: ENST00000407587.2:c.4651A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4648A>C
  hgvsp: ENST00000536101.1:c.4648A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.437-2620T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597614
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597614.2:n.575+1013T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.279-2620T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.396T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.641T>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2106A>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608921
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608921.1:n.490T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.384T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.608T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609809
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609809.1:n.601+1736T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.336T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3219A>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.396-2620T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.531-2620T>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg1550Arg
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/22-26291232-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291232
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291232
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 66816
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.379T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4656A>C
  hgvsp: ENSP00000386096.2:p.Lys1552Asn
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4653A>C
  hgvsp: ENSP00000334563.7:p.Lys1551Asn
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.473-2625T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.318T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.279-2625T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.174-2625T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.489-2625T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.357T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4653A>C
  hgvsp: ENSP00000441229.1:p.Lys1551Asn
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.437-2625T>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2111A>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608921
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608921.1:n.485T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.391T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.109T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.453T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.417T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.534-2625T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.636T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.218T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3224A>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.331T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.432-2625T>G
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys1551Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

22-26291252-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291252
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291252
    reference: chr 22
allele count: 1
allele frequency: 1.728488954955578e-5
allele num: 57854
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4668+5G>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.534-2645C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.388-17C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.432-2645C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.279-2645C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609809
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609809.1:n.601+1711C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.354-17C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.531-2645C>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2126+5G>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4671+5G>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.174-2645C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.437-2645C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.198C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.414-17C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608921
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608921.1:n.482-17C>A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4668+5G>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.489-2645C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.311C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.359C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3239+5G>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.106-17C>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.396-2645C>A
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.4668+5G>T
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

22-26291254-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291254
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291254
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 57084
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.489-2647A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.296A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.432-2647A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.531-2647A>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.396-2647A>G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4668+7T>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.174-2647A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.473-2647A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.437-2647A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.414-19A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4668+7T>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.309A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.354-19A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.357A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3239+7T>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4671+7T>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.614A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609820
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609820.1:n.633+51A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.534-2647A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2126+7T>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.196A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597614
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597614.2:n.575+986A>G
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.4668+7T>C
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

22-26291256-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291256
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291256
    reference: chr 22
allele count: 1
allele frequency: 1.777019582755802e-5
allele num: 56274
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4668+9T>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609820
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609820.1:n.633+49A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.579A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.194A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609809
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609809.1:n.601+1707A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.307A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.454-2649A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.106-21A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.566-2649A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.450-21A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.534-2649A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.414-21A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.388-21A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.612A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.294A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.473-2649A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608921
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608921.1:n.482-21A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.354-21A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3239+9T>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597614
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597614.2:n.575+984A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4668+9T>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.489-2649A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.432-2649A>G
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

22-26291260-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291260
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291260
    reference: chr 22
allele count: 1
allele frequency: 1.890645088104061e-5
allele num: 52892
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.473-2653C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609820
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609820.1:n.633+45C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.437-2653C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.414-25C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2126+13G>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.174-2653C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.489-2653C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.432-2653C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.303C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.354-25C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.190C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4668+13G>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.351C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.450-25C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.454-2653C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608921
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608921.1:n.482-25C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.290C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.575C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609809
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609809.1:n.601+1703C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.531-2653C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3239+13G>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.566-2653C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597614
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597614.2:n.575+980C>G
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

22-26291265-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291265
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291265
    reference: chr 22
allele count: 236
allele frequency: 4.632173981314281e-3
allele num: 50948
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.354-30A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.450-30A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4668+18T>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.185A>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4668+18T>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.346A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.570A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.298A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608921
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608921.1:n.482-30A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.388-30A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609820
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609820.1:n.633+40A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.534-2658A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3239+18T>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.106-30A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.454-2658A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.566-2658A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.432-2658A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4671+18T>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.437-2658A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.414-30A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.174-2658A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597614
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597614.2:n.575+975A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.473-2658A>T
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 2
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

22-26291266-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291266
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291266
    reference: chr 22
allele count: 1
allele frequency: 1.991238550378335e-5
allele num: 50220
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.184G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.454-2659G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.297G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.174-2659G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.569G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4668+19C>G
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2126+19C>G
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597614
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597614.2:n.575+974G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.345G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.354-31G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.534-2659G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.566-2659G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.489-2659G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.602G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.106-31G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.284G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609820
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609820.1:n.633+39G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.473-2659G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4668+19C>G
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.432-2659G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.279-2659G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.450-31G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.531-2659G>C
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/22-26291272-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291272
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291271
    reference: chr 22
allele count: 1
allele frequency: 2.099252666050886e-5
allele num: 47636
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608921
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608921.1:n.482-38delT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.290delT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.354-38delT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2126+26delA
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.473-2666delT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.562delT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.177delT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.566-2666delT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4668+26delA
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.595delT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.279-2666delT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.388-38delT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.534-2666delT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609809
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609809.1:n.601+1690delT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4668+26delA
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.338delT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.454-2666delT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609820
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609820.1:n.633+32delT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.432-2666delT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.106-38delT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.414-38delT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597614
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597614.2:n.575+967delT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.531-2666delT
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: CA
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

22-26291274-CAGAAGTGTTAGAGAGTGGGCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291274
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291253
    reference: chr 22
allele count: 1
allele frequency: 2.122871820999448e-5
allele num: 47106
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608921
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609809
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: CAGAAGTGTTAGAGAGTGGGCA
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

22-26291279-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291279
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291279
    reference: chr 22
allele count: 1
allele frequency: 2.279981760145919e-5
allele num: 43860
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.396-2672C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.556C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.332C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.589C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.171C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.489-2672C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.271C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4668+32G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.174-2672C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.454-2672C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4671+32G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.531-2672C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3239+32G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608921
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608921.1:n.482-44C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609820
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609820.1:n.633+26C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.450-44C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.566-2672C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.284C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.432-2672C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597614
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597614.2:n.575+961C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.279-2672C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609809
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609809.1:n.601+1684C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.534-2672C>T
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

22-26291289-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26291289
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26291289
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 41110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.437-2682C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.106-54C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.432-2682C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.161C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000596813
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000596813.1:n.322C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4668+42G>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.174-2682C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609820
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609820.1:n.633+16C>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.396-2682C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4668+42G>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000593715
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000593715.1:n.274C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.534-2682C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609809
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609809.1:n.601+1674C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.261C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.546C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.579C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2126+42G>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.388-54C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.566-2682C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4671+42G>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.473-2682C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.354-54C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3239+42G>T
  variant of: http://identifiers.org/hgnc/18150
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

22-26294224-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26294224
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26294224
    reference: chr 22
allele count: 66
allele frequency: 5.701549784896076e-4
allele num: 115758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.112+1459C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3240-50G>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.387+1459C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.533+127C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4669-50G>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.395+1459C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.488+127C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2127-50G>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.173+2108C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.369+127C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.472+1459C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.565+127C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.212+2568C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.449+127C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4669-50G>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.353+2013C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.278+1459C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.530+127C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600903
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600903.1:n.88+127C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.431+1459C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.413+127C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.453+127C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.436+127C>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

22-26294227-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26294227
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26294227
    reference: chr 22
allele count: 3
allele frequency: 2.592509376242244e-5
allele num: 115718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.387+1456G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4669-47C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.112+1456G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600903
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600903.1:n.88+124G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.353+2010G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.436+124G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.278+1456G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.565+124G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.530+1456G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.173+2105G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3240-47C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.413+124G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.472+1456G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.395+1456G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2127-47C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.212+2565G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.431+1456G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.488+124G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.369+124G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.533+124G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.530+124G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.453+124G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4672-47C>T
  variant of: http://identifiers.org/hgnc/18150
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

22-26294235-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26294235
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26294235
    reference: chr 22
allele count: 1
allele frequency: 8.612522607871846e-6
allele num: 116110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.565+116C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.413+116C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2127-39G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.449+116C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.488+116C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4669-39G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3240-39G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.387+1448C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.431+1448C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.533+116C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600903
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600903.1:n.88+116C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.530+1448C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.395+1448C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.173+2097C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.353+2002C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.530+116C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.369+116C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.105+1448C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.472+1448C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.436+116C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.453+116C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4672-39G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.278+1448C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

22-26294241-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26294241
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26294241
    reference: chr 22
allele count: 2
allele frequency: 1.716355148207267e-5
allele num: 116526
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.413+110T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.431+1442T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.488+110T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.533+110T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4669-33A>G
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.395+1442T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.449+110T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.105+1442T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.173+2091T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4672-33A>G
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2127-33A>G
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.453+110T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600903
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600903.1:n.88+110T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.387+1442T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.530+110T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.212+2551T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.472+1442T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.436+110T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.112+1442T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4669-33A>G
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3240-33A>G
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.353+1996T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.530+1442T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

22-26294246-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26294246
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26294246
    reference: chr 22
allele count: 491
allele frequency: 4.208018374727893e-3
allele num: 116682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.112+1437G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.395+1437G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.530+105G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.533+105G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.413+105G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4672-28C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.488+105G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.436+105G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4669-28C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.353+1991G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.565+105G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.369+105G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2127-28C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.173+2086G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600903
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600903.1:n.88+105G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3240-28C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.453+105G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.431+1437G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4669-28C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.472+1437G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.105+1437G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.278+1437G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.387+1437G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 13
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

22-26294247-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26294247
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26294247
    reference: chr 22
allele count: 15
allele frequency: 1.28323580741197e-4
allele num: 116892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.212+2545C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.533+104C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4669-27G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.353+1990C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.413+104C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.278+1436C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.565+104C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.472+1436C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.395+1436C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.105+1436C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.173+2085C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.369+104C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.453+104C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3240-27G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.530+104C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.431+1436C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.449+104C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.436+104C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4669-27G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.387+1436C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600903
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600903.1:n.88+104C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.112+1436C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.488+104C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

22-26294249-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26294249
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26294249
    reference: chr 22
allele count: 1
allele frequency: 8.538834619851082e-6
allele num: 117112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.533+102C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.488+102C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.565+102C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.212+2543C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.278+1434C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4669-25G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.530+1434C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.449+102C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.173+2083C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.105+1434C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4669-25G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600903
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600903.1:n.88+102C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.395+1434C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.353+1988C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3240-25G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.453+102C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.530+102C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.387+1434C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.112+1434C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.413+102C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.431+1434C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2127-25G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.472+1434C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP

22-26294259-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26294259
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26294259
    reference: chr 22
allele count: 3
allele frequency: 2.545868056144877e-5
allele num: 117838
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.395+1424G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.173+2073G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.488+92G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.278+1424G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.212+2533G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2127-15C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.530+92G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.533+92G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.387+1424G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4669-15C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.431+1424G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3240-15C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600903
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600903.1:n.88+92G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.436+92G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.449+92G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.453+92G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4672-15C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.565+92G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.105+1424G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.112+1424G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.530+1424G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.413+92G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.353+1978G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

22-26294260-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26294260
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26294260
    reference: chr 22
allele count: 1
allele frequency: 8.478168715557439e-6
allele num: 117950
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600903
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600903.1:n.88+91A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.353+1977A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.530+91A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.449+91A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.105+1423A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.431+1423A>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2127-14T>G
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.436+91A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3240-14T>G
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.530+1423A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.112+1423A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.173+2072A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.565+91A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.278+1423A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.533+91A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.387+1423A>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.395+1423A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.488+91A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4672-14T>G
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.472+1423A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.413+91A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4669-14T>G
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4669-14T>G
  variant of: http://identifiers.org/hgnc/18150
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

22-26294266-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26294266
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26294266
    reference: chr 22
allele count: 1
allele frequency: 8.445660619573662e-6
allele num: 118404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2127-8T>G
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.395+1417A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.278+1417A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600903
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600903.1:n.88+85A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.387+1417A>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4669-8T>G
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4672-8T>G
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.431+1417A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.530+85A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.112+1417A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.565+85A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.436+85A>C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4669-8T>G
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3240-8T>G
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.212+2526A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.449+85A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.173+2066A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.369+85A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.413+85A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.472+1417A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.530+1417A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.488+85A>C
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.4669-8T>G
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

22-26294269-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26294269
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26294269
    reference: chr 22
allele count: 1
allele frequency: 8.429428821903027e-6
allele num: 118632
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.436+82A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.369+82A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3240-5T>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4669-5T>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.105+1414A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600903
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600903.1:n.88+82A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.413+82A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.565+82A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.530+1414A>G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4669-5T>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.449+82A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.431+1414A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.212+2523A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2127-5T>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4672-5T>C
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.530+82A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.387+1414A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.453+82A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.112+1414A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.488+82A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.278+1414A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.353+1968A>G
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.4669-5T>C
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/22-26294274-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26294274
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26294274
    reference: chr 22
allele count: 1
allele frequency: 8.399690891375198e-6
allele num: 119052
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.533+77G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4672C>A
  hgvsp: ENSP00000386096.2:p.Leu1558Ile
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.436+77G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.472+1409G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3240C>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.413+77G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.369+77G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.105+1409G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.449+77G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.530+1409G>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.395+1409G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.112+1409G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.353+1963G>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2127C>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.387+1409G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.212+2518G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600903
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600903.1:n.88+77G>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4669C>A
  hgvsp: ENSP00000334563.7:p.Leu1557Ile
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4669C>A
  hgvsp: ENSP00000441229.1:p.Leu1557Ile
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.530+77G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.565+77G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.278+1409G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu1557Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP

22-26294280-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26294280
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26294280
    reference: chr 22
allele count: 1
allele frequency: 8.366240546148183e-6
allele num: 119528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.369+71C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.431+1403C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4675G>A
  hgvsp: ENSP00000334563.7:p.Glu1559Lys
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4675G>A
  hgvsp: ENSP00000441229.1:p.Glu1559Lys
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.395+1403C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.212+2512C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.387+1403C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2133G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.488+71C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.105+1403C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.112+1403C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4678G>A
  hgvsp: ENSP00000386096.2:p.Glu1560Lys
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.353+1957C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600903
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600903.1:n.88+71C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.436+71C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.449+71C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.413+71C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.472+1403C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.453+71C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.530+71C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.533+71C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3246G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.278+1403C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu1559Lys
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

22-26294282-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26294282
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26294282
    reference: chr 22
allele count: 4
allele frequency: 3.343531103198087e-5
allele num: 119634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.453+69C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.395+1401C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4680G>A
  hgvsp: ENST00000407587.2:c.4680G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4677G>A
  hgvsp: ENST00000335473.7:c.4677G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.488+69C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.353+1955C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.105+1401C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.530+69C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.533+69C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.565+69C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600903
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600903.1:n.88+69C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4677G>A
  hgvsp: ENST00000536101.1:c.4677G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.212+2510C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.387+1401C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2135G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.369+69C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.449+69C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.278+1401C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3248G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.413+69C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.436+69C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.530+1401C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.112+1401C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu1559Glu
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-26294300-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26294300
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26294300
    reference: chr 22
allele count: 6
allele frequency: 4.984713545128273e-5
allele num: 120368
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.395+1383G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4698C>T
  hgvsp: ENST00000407587.2:c.4698C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.488+51G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600903
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600903.1:n.88+51G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.533+51G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.413+51G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4695C>T
  hgvsp: ENST00000335473.7:c.4695C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3266C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.278+1383G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.387+1383G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.449+51G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4695C>T
  hgvsp: ENST00000536101.1:c.4695C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.212+2492G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.353+1937G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2153C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.431+1383G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.173+2032G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.436+51G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.530+51G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.565+51G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.472+1383G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.530+1383G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.112+1383G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp1565Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

22-26294301-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26294301
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26294301
    reference: chr 22
allele count: 15
allele frequency: 1.245516141889199e-4
allele num: 120432
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.173+2031C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2154G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.472+1382C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4696G>A
  hgvsp: ENSP00000334563.7:p.Gly1566Arg
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.212+2491C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4696G>A
  hgvsp: ENSP00000441229.1:p.Gly1566Arg
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.395+1382C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.387+1382C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.369+50C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3267G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.530+1382C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600903
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600903.1:n.88+50C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.112+1382C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.105+1382C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.453+50C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4699G>A
  hgvsp: ENSP00000386096.2:p.Gly1567Arg
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.565+50C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.413+50C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.353+1936C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.431+1382C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.449+50C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.488+50C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.278+1382C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly1566Arg
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

22-26294303-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26294303
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26294303
    reference: chr 22
allele count: 1
allele frequency: 8.299719469481931e-6
allele num: 120486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.112+1380C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.530+1380C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.565+48C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.431+1380C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.387+1380C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3269G>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.369+48C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600903
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600903.1:n.88+48C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.436+48C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.449+48C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.472+1380C>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2156G>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.173+2029C>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4698G>T
  hgvsp: ENST00000536101.1:c.4698G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.395+1380C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.488+48C>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4701G>T
  hgvsp: ENST00000407587.2:c.4701G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4698G>T
  hgvsp: ENST00000335473.7:c.4698G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.533+48C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.353+1934C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.413+48C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.212+2489C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.278+1380C>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly1566Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

22-26294317-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26294317
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26294317
    reference: chr 22
allele count: 1
allele frequency: 8.289811821271656e-6
allele num: 120630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4712C>T
  hgvsp: ENSP00000441229.1:p.Ala1571Val
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.369+34G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.488+34G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.387+1366G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.353+1920G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.449+34G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.105+1366G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.173+2015G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.472+1366G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3283C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600903
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600903.1:n.88+34G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4712C>T
  hgvsp: ENSP00000334563.7:p.Ala1571Val
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4715C>T
  hgvsp: ENSP00000386096.2:p.Ala1572Val
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2170C>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.413+34G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.212+2475G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.436+34G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.565+34G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.112+1366G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.395+1366G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.533+34G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.530+34G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.278+1366G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala1571Val
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

22-26294320-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26294320
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26294320
    reference: chr 22
allele count: 1
allele frequency: 8.28775070445881e-6
allele num: 120660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.488+31T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3286A>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.431+1363T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.565+31T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.105+1363T>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2173A>T
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4718A>T
  hgvsp: ENSP00000386096.2:p.His1573Leu
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.112+1363T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.212+2472T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.278+1363T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4715A>T
  hgvsp: ENSP00000441229.1:p.His1572Leu
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.436+31T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.472+1363T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.387+1363T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.369+31T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.353+1917T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.413+31T>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4715A>T
  hgvsp: ENSP00000334563.7:p.His1572Leu
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.530+31T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.449+31T>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.395+1363T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.173+2012T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600903
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600903.1:n.88+31T>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His1572Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP

22-26294323-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26294323
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26294323
    reference: chr 22
allele count: 2
allele frequency: 1.657247974014352e-5
allele num: 120682
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.105+1360T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.112+1360T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.387+1360T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4718A>G
  hgvsp: ENSP00000441229.1:p.Gln1573Arg
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4721A>G
  hgvsp: ENSP00000386096.2:p.Gln1574Arg
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4718A>G
  hgvsp: ENSP00000334563.7:p.Gln1573Arg
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.488+28T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2176A>G
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.436+28T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600903
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600903.1:n.88+28T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.173+2009T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597548.1:n.530+1360T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3289A>G
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.369+28T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.533+28T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.278+1360T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.413+28T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.353+1914T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.472+1360T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.530+28T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.431+1360T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.449+28T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.453+28T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln1573Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

22-26294327-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26294327
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26294327
    reference: chr 22
allele count: 2
allele frequency: 1.657055743355207e-5
allele num: 120696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  hgvsc: ENST00000539302.1:c.*2180G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.453+24C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4725G>A
  hgvsp: ENST00000407587.2:c.4725G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3293G>A
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609570.1:n.212+2465C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.436+24C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608257.1:n.431+1356C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600269
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600269.1:n.105+1356C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000441229
  ensembl transcript: ENST00000536101
  gene symbol: MYO18B
  hgvsc: ENST00000536101.1:c.4722G>A
  hgvsp: ENST00000536101.1:c.4722G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609823.1:n.278+1356C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.413+24C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4722G>A
  hgvsp: ENST00000335473.7:c.4722G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000453457.3:n.387+1356C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000607895.1:n.173+2005C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.369+24C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.533+24C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599792.1:n.112+1356C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.449+24C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600903
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600903.1:n.88+24C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.565+24C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600211.1:n.395+1356C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599080
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000599080.1:n.472+1356C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594585.1:n.353+1910C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu1574Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

22-26294348-TACCTGTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26294348
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 26294341
    reference: chr 22
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594856
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594856.1:n.365_369+2delCACAGGT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133454
  ensembl transcript: ENST00000418374
  gene symbol: MYO18B
  hgvsc: ENST00000418374.2:n.3319_3325delGTGACCT
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608115
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608115.1:n.561_565+2delCACAGGT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000334563
  ensembl transcript: ENST00000335473
  gene symbol: MYO18B
  hgvsc: ENST00000335473.7:c.4748_4754delGTGACCT
  hgvsp: ENSP00000334563.7:p.Cys1583LeufsTer8
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000595102
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000595102.1:n.449_453+2delCACAGGT
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609889
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609889.1:n.484_488+2delCACAGGT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000599792
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000386096
  ensembl transcript: ENST00000407587
  gene symbol: MYO18B
  hgvsc: ENST00000407587.2:c.4751_4757delGTGACCT
  hgvsp: ENSP00000386096.2:p.Cys1584LeufsTer8
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594585
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000133454
  ensembl protein: ENSP00000437587
  ensembl transcript: ENST00000539302
  gene symbol: MYO18B
  variant of: http://identifiers.org/hgnc/18150
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609275
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609275.1:n.526_530+2delCACAGGT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608257
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600903
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000600903.1:n.84_88+2delCACAGGT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609570
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000607895
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000608507
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000608507.1:n.445_449+2delCACAGGT
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000594542
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000594542.1:n.529_533+2delCACAGGT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000453457
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597548
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609157
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000609157.1:n.409_413+2delCACAGGT
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000597284
  gene symbol: CTA-125H2.2
  hgvsc: ENST00000597284.1:n.432_436+2delCACAGGT
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000600211
  gene symbol: CTA-125H2.2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231933
  ensembl transcript: ENST00000609823
  gene symbol: CTA-125H2.2
canonical: false
consequence: splice donor
filter: PASS
hgvs: n.432_436+2delCACAGGT
num of homozygotes: 0
reference allele: TACCTGTG

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608115
gene symbol: CTA-125H2.2
hgvsc: ENST00000608115.1:n.566-2533G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608507
gene symbol: CTA-125H2.2
hgvsc: ENST00000608507.1:n.545G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597284
gene symbol: CTA-125H2.2
hgvsc: ENST00000597284.1:n.437-2533G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608257
gene symbol: CTA-125H2.2
hgvsc: ENST00000608257.1:n.432-2533G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597614
gene symbol: CTA-125H2.2
hgvsc: ENST00000597614.2:n.575+1100G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000595102
gene symbol: CTA-125H2.2
hgvsc: ENST00000595102.1:n.454-2533G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609570
gene symbol: CTA-125H2.2
hgvsc: ENST00000609570.1:n.410G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597548
gene symbol: CTA-125H2.2
hgvsc: ENST00000597548.1:n.531-2533G>A

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 152
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8937
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 348
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 372
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 22713
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 255
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2103
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9564
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4582
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 24
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10787
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 514
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1725
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14329
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2604
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 163
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2352
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1737
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27175
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3101
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1173
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.772609635905981e-5
allele num: 56414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7344
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.315e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.21e-1

DP
type: SiteQuality
SIO_000300: 1.191109e6

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

QD
type: SiteQuality
SIO_000300: 8.630000000000001e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000596813
gene symbol: CTA-125H2.2
hgvsc: ENST00000596813.1:n.471G>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000607895
gene symbol: CTA-125H2.2
hgvsc: ENST00000607895.1:n.174-2533G>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608257
gene symbol: CTA-125H2.2
hgvsc: ENST00000608257.1:n.432-2533G>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609809
gene symbol: CTA-125H2.2
hgvsc: ENST00000609809.1:n.601+1823G>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594856
gene symbol: CTA-125H2.2
hgvsc: ENST00000594856.1:n.695G>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609889
gene symbol: CTA-125H2.2
hgvsc: ENST00000609889.1:n.489-2533G>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000133454
ensembl transcript: ENST00000418374
gene symbol: MYO18B
hgvsc: ENST00000418374.2:n.3132C>G
variant of: http://identifiers.org/hgnc/18150

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597548
gene symbol: CTA-125H2.2
hgvsc: ENST00000597548.1:n.531-2533G>C

GenotypeDepth
all individuals: 24
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2103
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22713
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8937
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9564
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 152
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4582
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 372
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 255
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10787
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 514
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 348
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1725
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2604
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2352
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1737
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14329
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27175
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1173
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3101
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.772609635905981e-5
allele num: 56414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13034
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.315e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

DP
type: SiteQuality
SIO_000300: 1.191109e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.21e-1

QD
type: SiteQuality
SIO_000300: 8.630000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.55e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000599792
gene symbol: CTA-125H2.2
hgvsc: ENST00000599792.1:n.307A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609889
gene symbol: CTA-125H2.2
hgvsc: ENST00000609889.1:n.489-2536A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000453457
gene symbol: CTA-125H2.2
hgvsc: ENST00000453457.3:n.480A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597614
gene symbol: CTA-125H2.2
hgvsc: ENST00000597614.2:n.575+1097A>G

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000600211
gene symbol: CTA-125H2.2
hgvsc: ENST00000600211.1:n.396-2536A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609157
gene symbol: CTA-125H2.2
hgvsc: ENST00000609157.1:n.506A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000607895
gene symbol: CTA-125H2.2
hgvsc: ENST00000607895.1:n.174-2536A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594542
gene symbol: CTA-125H2.2
hgvsc: ENST00000594542.1:n.534-2536A>G

GenotypeDepth
all individuals: 67
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 346
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22454
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2022
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4563
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9972
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10563
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 253
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9109
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 506
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3107
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2558
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27298
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1713
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14958
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1537
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2361
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.371742112482853e-4
allele num: 7290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13010
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56176
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.018e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.076e0

VQSLOD
type: SiteQuality
SIO_000300: -2.254e0

QD
type: SiteQuality
SIO_000300: 1.928e1

FS
type: SiteQuality
SIO_000300: 1.2041e1

DP
type: SiteQuality
SIO_000300: 1.181536e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000607895
gene symbol: CTA-125H2.2
hgvsc: ENST00000607895.1:n.174-2538G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000599080
gene symbol: CTA-125H2.2
hgvsc: ENST00000599080.1:n.473-2538G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597548
gene symbol: CTA-125H2.2
hgvsc: ENST00000597548.1:n.531-2538G>A

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000600211
gene symbol: CTA-125H2.2
hgvsc: ENST00000600211.1:n.396-2538G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609889
gene symbol: CTA-125H2.2
hgvsc: ENST00000609889.1:n.489-2538G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608921
gene symbol: CTA-125H2.2
hgvsc: ENST00000608921.1:n.572G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594542
gene symbol: CTA-125H2.2
hgvsc: ENST00000594542.1:n.534-2538G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597284
gene symbol: CTA-125H2.2
hgvsc: ENST00000597284.1:n.437-2538G>A

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9235
bin: 1.25e1
variant carriers: 14

GenotypeDepth
all individuals: 68
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 127
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 348
bin: 4.25e1
variant carriers: 4

GenotypeDepth
all individuals: 26
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 252
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 398
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10168
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 34
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 22107
bin: 2.25e1
variant carriers: 24

GenotypeDepth
all individuals: 4657
bin: 1.75e1
variant carriers: 26

GenotypeDepth
all individuals: 152
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 10433
bin: 2.75e1
variant carriers: 10

GenotypeDepth
all individuals: 18
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 22
bin: 7.75e1
variant carriers: 4

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 2042
bin: 3.25e1
variant carriers: 11

GenotypeDepth
all individuals: 514
bin: 3.75e1
variant carriers: 6

GenotypeQuality
all individuals: 26517
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1273
bin: 9.75e1
variant carriers: 116

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 155
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 15236
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3018
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 311
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1747
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1566
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 883
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2569
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2392
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1397
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 3.568030447193149e-4
allele num: 8408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 81
allele frequency: 1.45114479200258e-3
allele num: 55818
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.291989664082687e-3
allele num: 774
num of homozygotes: 0

South Asian
type: Population
allele count: 21
allele frequency: 1.619870410367171e-3
allele num: 12964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.608805485384338e-4
allele num: 5542
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 9.017132551848512e-4
allele num: 8872
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.143646408839779e-4
allele num: 7240
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.26e0

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.177478e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

QD
type: SiteQuality
SIO_000300: 1.263e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000599080
gene symbol: CTA-125H2.2
hgvsc: ENST00000599080.1:n.473-2540T>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597284
gene symbol: CTA-125H2.2
hgvsc: ENST00000597284.1:n.437-2540T>C

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000600211
gene symbol: CTA-125H2.2
hgvsc: ENST00000600211.1:n.396-2540T>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608507
gene symbol: CTA-125H2.2
hgvsc: ENST00000608507.1:n.538T>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609809
gene symbol: CTA-125H2.2
hgvsc: ENST00000609809.1:n.601+1816T>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594585
gene symbol: CTA-125H2.2
hgvsc: ENST00000594585.1:n.442T>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608921
gene symbol: CTA-125H2.2
hgvsc: ENST00000608921.1:n.570T>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608115
gene symbol: CTA-125H2.2
hgvsc: ENST00000608115.1:n.566-2540T>C

GenotypeDepth
all individuals: 34
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 345
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1979
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10374
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 506
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 405
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10352
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22186
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9303
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4472
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2516
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2372
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15580
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1717
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3044
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1173
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27528
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.794687724335966e-5
allele num: 55720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12944
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.86e1

VQSLOD
type: SiteQuality
SIO_000300: -1.453e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

MQ
type: SiteQuality
SIO_000300: 5.895e1

DP
type: SiteQuality
SIO_000300: 1.172226e6

FS
type: SiteQuality
SIO_000300: 2.984e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597548
gene symbol: CTA-125H2.2
hgvsc: ENST00000597548.1:n.531-2550C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000599080
gene symbol: CTA-125H2.2
hgvsc: ENST00000599080.1:n.473-2550C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594542
gene symbol: CTA-125H2.2
hgvsc: ENST00000594542.1:n.534-2550C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609823
gene symbol: CTA-125H2.2
hgvsc: ENST00000609823.1:n.279-2550C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609889
gene symbol: CTA-125H2.2
hgvsc: ENST00000609889.1:n.489-2550C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608921
gene symbol: CTA-125H2.2
hgvsc: ENST00000608921.1:n.560C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594585
gene symbol: CTA-125H2.2
hgvsc: ENST00000594585.1:n.432C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597614
gene symbol: CTA-125H2.2
hgvsc: ENST00000597614.2:n.575+1083C>G

GenotypeDepth
all individuals: 470
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11965
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19530
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10611
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 249
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 344
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4773
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9797
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1917
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23325
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17998
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1228
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2581
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2756
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2743
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1832
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6896
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.226091221186856e-4
allele num: 8156
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12710
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.44e-1

FS
type: SiteQuality
SIO_000300: 1.248e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 2.33e-1

QD
type: SiteQuality
SIO_000300: 1.37e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.72e-1

DP
type: SiteQuality
SIO_000300: 1.129419e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597548
gene symbol: CTA-125H2.2
hgvsc: ENST00000597548.1:n.531-2552A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609157
gene symbol: CTA-125H2.2
hgvsc: ENST00000609157.1:n.490A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597614
gene symbol: CTA-125H2.2
hgvsc: ENST00000597614.2:n.575+1081A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608257
gene symbol: CTA-125H2.2
hgvsc: ENST00000608257.1:n.432-2552A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000595102
gene symbol: CTA-125H2.2
hgvsc: ENST00000595102.1:n.454-2552A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000133454
ensembl transcript: ENST00000418374
gene symbol: MYO18B
hgvsc: ENST00000418374.2:n.3151T>C
variant of: http://identifiers.org/hgnc/18150

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609809
gene symbol: CTA-125H2.2
hgvsc: ENST00000609809.1:n.601+1804A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609823
gene symbol: CTA-125H2.2
hgvsc: ENST00000609823.1:n.279-2552A>G

GenotypeDepth
all individuals: 23
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1912
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12028
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9728
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4579
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 468
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10580
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 500
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 345
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19770
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2734
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18153
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2707
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1761
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24725
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2537
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.226993865030675e-4
allele num: 8150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12696
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.57e0

MQRankSum
type: SiteQuality
SIO_000300: -1.018e0

DP
type: SiteQuality
SIO_000300: 1.129494e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 7.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609157
gene symbol: CTA-125H2.2
hgvsc: ENST00000609157.1:n.488C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000599080
gene symbol: CTA-125H2.2
hgvsc: ENST00000599080.1:n.473-2554C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597284
gene symbol: CTA-125H2.2
hgvsc: ENST00000597284.1:n.437-2554C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000593715
gene symbol: CTA-125H2.2
hgvsc: ENST00000593715.1:n.402C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000599792
gene symbol: CTA-125H2.2
hgvsc: ENST00000599792.1:n.289C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608115
gene symbol: CTA-125H2.2
hgvsc: ENST00000608115.1:n.566-2554C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000607895
gene symbol: CTA-125H2.2
hgvsc: ENST00000607895.1:n.174-2554C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608921
gene symbol: CTA-125H2.2
hgvsc: ENST00000608921.1:n.556C>T

GenotypeDepth
all individuals: 1908
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 249
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9582
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 509
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 480
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12308
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10765
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 152
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4577
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19436
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2553
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18552
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1750
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24207
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2694
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 327
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8108
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.929115407147042e-4
allele num: 6828
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.31e0

DP
type: SiteQuality
SIO_000300: 1.122479e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
SIO_000300: 2.479e1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.396e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609823
gene symbol: CTA-125H2.2
hgvsc: ENST00000609823.1:n.279-2558T>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597614
gene symbol: CTA-125H2.2
hgvsc: ENST00000597614.2:n.575+1075T>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000607895
gene symbol: CTA-125H2.2
hgvsc: ENST00000607895.1:n.174-2558T>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597548
gene symbol: CTA-125H2.2
hgvsc: ENST00000597548.1:n.531-2558T>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609570
gene symbol: CTA-125H2.2
hgvsc: ENST00000609570.1:n.385T>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609809
gene symbol: CTA-125H2.2
hgvsc: ENST00000609809.1:n.601+1798T>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608921
gene symbol: CTA-125H2.2
hgvsc: ENST00000608921.1:n.552T>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608257
gene symbol: CTA-125H2.2
hgvsc: ENST00000608257.1:n.432-2558T>G

GenotypeDepth
all individuals: 342
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12873
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 501
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18873
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 500
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1883
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 11111
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4529
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9290
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2602
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2672
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23711
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2739
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19350
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1751
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 9.75e1
variant carriers: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6736
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.688282138794084e-5
allele num: 52740
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8032
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5296
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 5.977e0

QD
type: SiteQuality
SIO_000300: 8.220000000000001e0

DP
type: SiteQuality
SIO_000300: 1.108607e6

MQRankSum
type: SiteQuality
SIO_000300: 9.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.679e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597614
gene symbol: CTA-125H2.2
hgvsc: ENST00000597614.2:n.575+1074G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597548
gene symbol: CTA-125H2.2
hgvsc: ENST00000597548.1:n.531-2559G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000593715
gene symbol: CTA-125H2.2
hgvsc: ENST00000593715.1:n.397G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609809
gene symbol: CTA-125H2.2
hgvsc: ENST00000609809.1:n.601+1797G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000595102
gene symbol: CTA-125H2.2
hgvsc: ENST00000595102.1:n.454-2559G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608115
gene symbol: CTA-125H2.2
hgvsc: ENST00000608115.1:n.566-2559G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000599792
gene symbol: CTA-125H2.2
hgvsc: ENST00000599792.1:n.284G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609889
gene symbol: CTA-125H2.2
hgvsc: ENST00000609889.1:n.489-2559G>A

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1908
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9245
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 123
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4548
bin: 1.75e1
variant carriers: 3

GenotypeDepth
all individuals: 249
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 11204
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 18664
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 33
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 502
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12977
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 508
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 1755
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1066
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2722
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19525
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2622
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2593
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23580
bin: 6.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7980
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6684
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.52619329238048e-4
allele num: 52418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8000
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.396931927133269e-4
allele num: 12516
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.10592e6

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

FS
type: SiteQuality
SIO_000300: 3.947e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

QD
type: SiteQuality
SIO_000300: 1.218e1

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000600211
gene symbol: CTA-125H2.2
hgvsc: ENST00000600211.1:n.396-2560C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609889
gene symbol: CTA-125H2.2
hgvsc: ENST00000609889.1:n.489-2560C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597548
gene symbol: CTA-125H2.2
hgvsc: ENST00000597548.1:n.531-2560C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609570
gene symbol: CTA-125H2.2
hgvsc: ENST00000609570.1:n.383C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609809
gene symbol: CTA-125H2.2
hgvsc: ENST00000609809.1:n.601+1796C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609823
gene symbol: CTA-125H2.2
hgvsc: ENST00000609823.1:n.279-2560C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594542
gene symbol: CTA-125H2.2
hgvsc: ENST00000594542.1:n.534-2560C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000596813
gene symbol: CTA-125H2.2
hgvsc: ENST00000596813.1:n.444C>T

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11490
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4674
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13322
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18090
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 538
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 508
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9042
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1890
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2799
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1797
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1163
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 482
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1269
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2635
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2583
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1143
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19969
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22081
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.923446816695518e-5
allele num: 51990
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5216
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.554e0

MQRankSum
type: SiteQuality
SIO_000300: -5.35e-1

FS
type: SiteQuality
SIO_000300: 7.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.456e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.485e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 1.095513e6

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000453457
gene symbol: CTA-125H2.2
hgvsc: ENST00000453457.3:n.441G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000595102
gene symbol: CTA-125H2.2
hgvsc: ENST00000595102.1:n.454-2575G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594856
gene symbol: CTA-125H2.2
hgvsc: ENST00000594856.1:n.653G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000599080
gene symbol: CTA-125H2.2
hgvsc: ENST00000599080.1:n.473-2575G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609157
gene symbol: CTA-125H2.2
hgvsc: ENST00000609157.1:n.467G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609809
gene symbol: CTA-125H2.2
hgvsc: ENST00000609809.1:n.601+1781G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594542
gene symbol: CTA-125H2.2
hgvsc: ENST00000594542.1:n.534-2575G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608257
gene symbol: CTA-125H2.2
hgvsc: ENST00000608257.1:n.432-2575G>A

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15555
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 152
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1813
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 34
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8198
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 15616
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 23
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 497
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 711
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4451
bin: 1.75e1
variant carriers: 6

GenotypeDepth
all individuals: 12695
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2283
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2718
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1175
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 23134
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1740
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2835
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19686
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6116
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.578947368421053e-3
allele num: 7600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49040
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12032
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.388503193557345e-4
allele num: 7202
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

QD
type: SiteQuality
SIO_000300: 1.275e1

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

DP
type: SiteQuality
SIO_000300: 1.042651e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

FS
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000133454
ensembl protein: ENSP00000437587
ensembl transcript: ENST00000539302
gene symbol: MYO18B
hgvsc: ENST00000539302.1:c.*2062G>A
variant of: http://identifiers.org/hgnc/18150

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597548
gene symbol: CTA-125H2.2
hgvsc: ENST00000597548.1:n.531-2576C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000593715
gene symbol: CTA-125H2.2
hgvsc: ENST00000593715.1:n.380C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000599080
gene symbol: CTA-125H2.2
hgvsc: ENST00000599080.1:n.473-2576C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609809
gene symbol: CTA-125H2.2
hgvsc: ENST00000609809.1:n.601+1780C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594542
gene symbol: CTA-125H2.2
hgvsc: ENST00000594542.1:n.534-2576C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594585
gene symbol: CTA-125H2.2
hgvsc: ENST00000594585.1:n.406C>T

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000600211
gene symbol: CTA-125H2.2
hgvsc: ENST00000600211.1:n.396-2576C>T

GenotypeDepth
all individuals: 341
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12789
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 248
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8107
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1802
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 496
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4279
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 15841
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 23
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 730
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15495
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 33
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2799
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2285
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 307
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23478
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2716
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19792
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1693
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 193
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1070
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12024
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.636125654450262e-4
allele num: 6112
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.188331627430911e-5
allele num: 48850
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.102e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 1.038266e6

VQSLOD
type: SiteQuality
SIO_000300: 2.05e-1

MQ
type: SiteQuality
SIO_000300: 5.901e1

QD
type: SiteQuality
SIO_000300: 1.085e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609820
gene symbol: CTA-125H2.2
hgvsc: ENST00000609820.1:n.633+109G>A

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000133454
ensembl protein: ENSP00000386096
ensembl transcript: ENST00000407587
gene symbol: MYO18B
hgvsc: ENST00000407587.2:c.4620C>T
hgvsp: ENST00000407587.2:c.4620C>T(p.%3D)
variant of: http://identifiers.org/hgnc/18150

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597284
gene symbol: CTA-125H2.2
hgvsc: ENST00000597284.1:n.437-2589G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608921
gene symbol: CTA-125H2.2
hgvsc: ENST00000608921.1:n.521G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608115
gene symbol: CTA-125H2.2
hgvsc: ENST00000608115.1:n.566-2589G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609570
gene symbol: CTA-125H2.2
hgvsc: ENST00000609570.1:n.354G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609157
gene symbol: CTA-125H2.2
hgvsc: ENST00000609157.1:n.453G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608257
gene symbol: CTA-125H2.2
hgvsc: ENST00000608257.1:n.432-2589G>A

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 996
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13673
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 496
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7149
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3670
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 251
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18057
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13748
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 341
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1710
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1163
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 310
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26055
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2694
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17188
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1151
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2060
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1490
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.394700139470014e-4
allele num: 7170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.18799229826711e-5
allele num: 45704
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4692
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 9.98e0

DP
type: SiteQuality
SIO_000300: 9.88655e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

FS
type: SiteQuality
SIO_000300: 5.054e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609823
gene symbol: CTA-125H2.2
hgvsc: ENST00000609823.1:n.279-2590C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608257
gene symbol: CTA-125H2.2
hgvsc: ENST00000608257.1:n.432-2590C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608921
gene symbol: CTA-125H2.2
hgvsc: ENST00000608921.1:n.520C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000595102
gene symbol: CTA-125H2.2
hgvsc: ENST00000595102.1:n.454-2590C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597548
gene symbol: CTA-125H2.2
hgvsc: ENST00000597548.1:n.531-2590C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608507
gene symbol: CTA-125H2.2
hgvsc: ENST00000608507.1:n.488C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597284
gene symbol: CTA-125H2.2
hgvsc: ENST00000597284.1:n.437-2590C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608115
gene symbol: CTA-125H2.2
hgvsc: ENST00000608115.1:n.566-2590C>T

GenotypeDepth
all individuals: 340
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 999
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7158
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3354
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 491
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18236
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1673
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13954
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13641
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18123
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 387
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2603
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26446
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2722
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1386
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45778
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.733102253032929e-4
allele num: 11540
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.36e-1

QD
type: SiteQuality
SIO_000300: 1.073e1

VQSLOD
type: SiteQuality
SIO_000300: -1.76e-2

MQ
type: SiteQuality
SIO_000300: 5.934e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e-1

FS
type: SiteQuality
SIO_000300: 6.461e0

DP
type: SiteQuality
SIO_000300: 9.87658e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.94e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609275
gene symbol: CTA-125H2.2
hgvsc: ENST00000609275.1:n.657G>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608115
gene symbol: CTA-125H2.2
hgvsc: ENST00000608115.1:n.566-2604G>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597284
gene symbol: CTA-125H2.2
hgvsc: ENST00000597284.1:n.437-2604G>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000599080
gene symbol: CTA-125H2.2
hgvsc: ENST00000599080.1:n.473-2604G>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608257
gene symbol: CTA-125H2.2
hgvsc: ENST00000608257.1:n.432-2604G>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594542
gene symbol: CTA-125H2.2
hgvsc: ENST00000594542.1:n.534-2604G>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608507
gene symbol: CTA-125H2.2
hgvsc: ENST00000608507.1:n.474G>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609889
gene symbol: CTA-125H2.2
hgvsc: ENST00000609889.1:n.489-2604G>C

GenotypeDepth
all individuals: 11121
bin: 2.25e1
variant carriers: 11

GenotypeDepth
all individuals: 1627
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 3013
bin: 1.75e1
variant carriers: 11

GenotypeDepth
all individuals: 34
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 24
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 123
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 248
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 69
bin: 6.25e1
variant carriers: 3

GenotypeDepth
all individuals: 479
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 152
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5932
bin: 2.75e1
variant carriers: 3

GenotypeDepth
all individuals: 14916
bin: 1.25e1
variant carriers: 18

GenotypeDepth
all individuals: 20894
bin: 7.5e0
variant carriers: 6

GenotypeDepth
all individuals: 338
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1482
bin: 3.25e1
variant carriers: 3

GenotypeDepth
all individuals: 34
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 129
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14265
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1218
bin: 9.75e1
variant carriers: 62

GenotypeQuality
all individuals: 2551
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1732
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29382
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2862
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1763
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 524
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 186
bin: 9.25e1
variant carriers: 2

Latino
type: Population
allele count: 2
allele frequency: 3.55366027007818e-4
allele num: 5628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11072
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5060
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41950
num of homozygotes: 0

African
type: Population
allele count: 60
allele frequency: 9.025270758122744e-3
allele num: 6648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4280
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

FS
type: SiteQuality
SIO_000300: 1.148e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.28e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.57e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.16558e5

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597548
gene symbol: CTA-125H2.2
hgvsc: ENST00000597548.1:n.531-2606G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000593715
gene symbol: CTA-125H2.2
hgvsc: ENST00000593715.1:n.350G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000596813
gene symbol: CTA-125H2.2
hgvsc: ENST00000596813.1:n.398G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609157
gene symbol: CTA-125H2.2
hgvsc: ENST00000609157.1:n.436G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608257
gene symbol: CTA-125H2.2
hgvsc: ENST00000608257.1:n.432-2606G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594856
gene symbol: CTA-125H2.2
hgvsc: ENST00000594856.1:n.622G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594542
gene symbol: CTA-125H2.2
hgvsc: ENST00000594542.1:n.534-2606G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000600269
gene symbol: CTA-125H2.2
hgvsc: ENST00000600269.1:n.128G>A

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2979
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 5.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1472
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 479
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21201
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 338
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14983
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1727
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5834
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10794
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29637
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13844
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1161
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 448
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1713
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2533
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2855
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1163
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 479
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 2.012882447665056e-4
allele num: 4968
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.254437297480293e-5
allele num: 41354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4240
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

QD
type: SiteQuality
SIO_000300: 1.164e1

VQSLOD
type: SiteQuality
SIO_000300: 8.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

FS
type: SiteQuality
SIO_000300: 2.058e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

DP
type: SiteQuality
SIO_000300: 9.0841e5

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594542
gene symbol: CTA-125H2.2
hgvsc: ENST00000594542.1:n.534-2607C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597614
gene symbol: CTA-125H2.2
hgvsc: ENST00000597614.2:n.575+1026C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608921
gene symbol: CTA-125H2.2
hgvsc: ENST00000608921.1:n.503C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609820
gene symbol: CTA-125H2.2
hgvsc: ENST00000609820.1:n.633+91C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608115
gene symbol: CTA-125H2.2
hgvsc: ENST00000608115.1:n.566-2607C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608257
gene symbol: CTA-125H2.2
hgvsc: ENST00000608257.1:n.432-2607C>T

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000600211
gene symbol: CTA-125H2.2
hgvsc: ENST00000600211.1:n.396-2607C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000599080
gene symbol: CTA-125H2.2
hgvsc: ENST00000599080.1:n.473-2607C>T

GenotypeDepth
all individuals: 10539
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2929
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1879
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 481
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1457
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21430
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5722
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15026
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 338
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2028
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29669
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2485
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1677
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2856
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13257
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10928
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5396
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.036659877800407e-4
allele num: 4910
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40798
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

QD
type: SiteQuality
SIO_000300: 1.33e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

DP
type: SiteQuality
SIO_000300: 9.00911e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

FS
type: SiteQuality
SIO_000300: 1.254e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608115
gene symbol: CTA-125H2.2
hgvsc: ENST00000608115.1:n.566-2607C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608507
gene symbol: CTA-125H2.2
hgvsc: ENST00000608507.1:n.471C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594856
gene symbol: CTA-125H2.2
hgvsc: ENST00000594856.1:n.621C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609823
gene symbol: CTA-125H2.2
hgvsc: ENST00000609823.1:n.279-2607C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594542
gene symbol: CTA-125H2.2
hgvsc: ENST00000594542.1:n.534-2607C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608257
gene symbol: CTA-125H2.2
hgvsc: ENST00000608257.1:n.432-2607C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000607895
gene symbol: CTA-125H2.2
hgvsc: ENST00000607895.1:n.174-2607C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597548
gene symbol: CTA-125H2.2
hgvsc: ENST00000597548.1:n.531-2607C>G

GenotypeDepth
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2929
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15026
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5722
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1879
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21430
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 481
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10539
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1457
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 338
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13257
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2856
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2028
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2485
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29669
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1677
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 559
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.451100544144321e-5
allele num: 40798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10928
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

DP
type: SiteQuality
SIO_000300: 9.00911e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.254e0

QD
type: SiteQuality
SIO_000300: 1.33e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594856
gene symbol: CTA-125H2.2
hgvsc: ENST00000594856.1:n.620C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594542
gene symbol: CTA-125H2.2
hgvsc: ENST00000594542.1:n.534-2608C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609889
gene symbol: CTA-125H2.2
hgvsc: ENST00000609889.1:n.489-2608C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609823
gene symbol: CTA-125H2.2
hgvsc: ENST00000609823.1:n.279-2608C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000595102
gene symbol: CTA-125H2.2
hgvsc: ENST00000595102.1:n.454-2608C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609820
gene symbol: CTA-125H2.2
hgvsc: ENST00000609820.1:n.633+90C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597284
gene symbol: CTA-125H2.2
hgvsc: ENST00000597284.1:n.437-2608C>T

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000600211
gene symbol: CTA-125H2.2
hgvsc: ENST00000600211.1:n.396-2608C>T

GenotypeDepth
all individuals: 10628
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14941
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1437
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21613
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 479
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2779
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 33
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5698
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 244
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1891
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 337
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1676
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30067
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2007
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 668
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2848
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1177
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13688
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2477
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4194
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.130752373995617e-5
allele num: 10952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40868
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.694e0

FS
type: SiteQuality
SIO_000300: 5.119e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

VQSLOD
type: SiteQuality
SIO_000300: -2.354e0

DP
type: SiteQuality
SIO_000300: 8.99295e5

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 7.92e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000593715
gene symbol: CTA-125H2.2
hgvsc: ENST00000593715.1:n.338G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597614
gene symbol: CTA-125H2.2
hgvsc: ENST00000597614.2:n.575+1015G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000595102
gene symbol: CTA-125H2.2
hgvsc: ENST00000595102.1:n.454-2618G>A

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000133454
ensembl protein: ENSP00000437587
ensembl transcript: ENST00000539302
gene symbol: MYO18B
hgvsc: ENST00000539302.1:c.*2104C>T
variant of: http://identifiers.org/hgnc/18150

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608921
gene symbol: CTA-125H2.2
hgvsc: ENST00000608921.1:n.492G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609823
gene symbol: CTA-125H2.2
hgvsc: ENST00000609823.1:n.279-2618G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000607895
gene symbol: CTA-125H2.2
hgvsc: ENST00000607895.1:n.174-2618G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597284
gene symbol: CTA-125H2.2
hgvsc: ENST00000597284.1:n.437-2618G>A

GenotypeDepth
all individuals: 2156
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9554
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1411
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15120
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 481
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22717
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2678
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5326
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 244
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2790
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31314
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2226
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2873
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12763
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1161
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 455
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.407337723424271e-5
allele num: 10630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38372
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: 4.97e-1

DP
type: SiteQuality
SIO_000300: 8.66475e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.612e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.84e-1

QD
type: SiteQuality
SIO_000300: 1.198e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609820
gene symbol: CTA-125H2.2
hgvsc: ENST00000609820.1:n.633+78T>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608115
gene symbol: CTA-125H2.2
hgvsc: ENST00000608115.1:n.566-2620T>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000595102
gene symbol: CTA-125H2.2
hgvsc: ENST00000595102.1:n.454-2620T>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609157
gene symbol: CTA-125H2.2
hgvsc: ENST00000609157.1:n.422T>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000607895
gene symbol: CTA-125H2.2
hgvsc: ENST00000607895.1:n.174-2620T>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594585
gene symbol: CTA-125H2.2
hgvsc: ENST00000594585.1:n.362T>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608507
gene symbol: CTA-125H2.2
hgvsc: ENST00000608507.1:n.458T>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000599080
gene symbol: CTA-125H2.2
hgvsc: ENST00000599080.1:n.473-2620T>G

GenotypeDepth
all individuals: 1942
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 33
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2853
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5331
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 479
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 244
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1386
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15129
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9341
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22977
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31727
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12751
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1613
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2983
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2179
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2819
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6150
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.626464253821506e-5
allele num: 38074
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4012
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.963e1

VQSLOD
type: SiteQuality
SIO_000300: -1.081e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.45e-1

MQ
type: SiteQuality
SIO_000300: 5.723e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.575e0

DP
type: SiteQuality
SIO_000300: 8.59772e5

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608115
gene symbol: CTA-125H2.2
hgvsc: ENST00000608115.1:n.566-2625T>G

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000600211
gene symbol: CTA-125H2.2
hgvsc: ENST00000600211.1:n.396-2625T>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597548
gene symbol: CTA-125H2.2
hgvsc: ENST00000597548.1:n.531-2625T>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594856
gene symbol: CTA-125H2.2
hgvsc: ENST00000594856.1:n.603T>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000595102
gene symbol: CTA-125H2.2
hgvsc: ENST00000595102.1:n.454-2625T>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609809
gene symbol: CTA-125H2.2
hgvsc: ENST00000609809.1:n.601+1731T>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597614
gene symbol: CTA-125H2.2
hgvsc: ENST00000597614.2:n.575+1008T>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609820
gene symbol: CTA-125H2.2
hgvsc: ENST00000609820.1:n.633+73T>G

GenotypeDepth
all individuals: 3424
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 333
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 476
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1773
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1372
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5054
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 244
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15171
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23470
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8691
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1262
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31933
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3573
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11911
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2818
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1543
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2174
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1158
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36958
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6002
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

QD
type: SiteQuality
SIO_000300: 1.059e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

VQSLOD
type: SiteQuality
SIO_000300: -1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

DP
type: SiteQuality
SIO_000300: 8.40142e5

MQ
type: SiteQuality
SIO_000300: 5.705e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.72e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608507
gene symbol: CTA-125H2.2
hgvsc: ENST00000608507.1:n.450-17C>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594856
gene symbol: CTA-125H2.2
hgvsc: ENST00000594856.1:n.583C>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000595102
gene symbol: CTA-125H2.2
hgvsc: ENST00000595102.1:n.454-2645C>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609570
gene symbol: CTA-125H2.2
hgvsc: ENST00000609570.1:n.298C>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609275
gene symbol: CTA-125H2.2
hgvsc: ENST00000609275.1:n.616C>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608115
gene symbol: CTA-125H2.2
hgvsc: ENST00000608115.1:n.566-2645C>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609820
gene symbol: CTA-125H2.2
hgvsc: ENST00000609820.1:n.633+53C>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000599080
gene symbol: CTA-125H2.2
hgvsc: ENST00000599080.1:n.473-2645C>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597614
gene symbol: CTA-125H2.2
hgvsc: ENST00000597614.2:n.575+988C>A

GenotypeDepth
all individuals: 14827
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5983
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 337
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23829
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1400
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4250
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1284
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7282
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8738
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7619
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2002
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2787
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2186
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1158
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1536
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29938
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.139520281301017e-5
allele num: 31852
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3416
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.025e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.64e-1

QD
type: SiteQuality
SIO_000300: 8.51e0

MQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.75e-1

FS
type: SiteQuality
SIO_000300: 1.943e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 7.57217e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.47e-2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000595102
gene symbol: CTA-125H2.2
hgvsc: ENST00000595102.1:n.454-2647A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000453457
gene symbol: CTA-125H2.2
hgvsc: ENST00000453457.3:n.388-19A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609809
gene symbol: CTA-125H2.2
hgvsc: ENST00000609809.1:n.601+1709A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609823
gene symbol: CTA-125H2.2
hgvsc: ENST00000609823.1:n.279-2647A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608921
gene symbol: CTA-125H2.2
hgvsc: ENST00000608921.1:n.482-19A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594856
gene symbol: CTA-125H2.2
hgvsc: ENST00000594856.1:n.581A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608507
gene symbol: CTA-125H2.2
hgvsc: ENST00000608507.1:n.450-19A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608115
gene symbol: CTA-125H2.2
hgvsc: ENST00000608115.1:n.566-2647A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000600269
gene symbol: CTA-125H2.2
hgvsc: ENST00000600269.1:n.106-19A>G

GenotypeDepth
all individuals: 1418
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5814
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23834
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 243
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14712
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1265
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7572
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 467
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4229
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 419
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7918
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1954
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8520
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2767
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29667
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2187
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3454
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.58e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.249e1

DP
type: SiteQuality
SIO_000300: 7.51815e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.067e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000133454
ensembl protein: ENSP00000437587
ensembl transcript: ENST00000539302
gene symbol: MYO18B
hgvsc: ENST00000539302.1:c.*2126+9T>C
variant of: http://identifiers.org/hgnc/18150

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000133454
ensembl protein: ENSP00000386096
ensembl transcript: ENST00000407587
gene symbol: MYO18B
hgvsc: ENST00000407587.2:c.4671+9T>C
variant of: http://identifiers.org/hgnc/18150

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000596813
gene symbol: CTA-125H2.2
hgvsc: ENST00000596813.1:n.355A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597284
gene symbol: CTA-125H2.2
hgvsc: ENST00000597284.1:n.437-2649A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000607895
gene symbol: CTA-125H2.2
hgvsc: ENST00000607895.1:n.174-2649A>G

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000600211
gene symbol: CTA-125H2.2
hgvsc: ENST00000600211.1:n.396-2649A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597548
gene symbol: CTA-125H2.2
hgvsc: ENST00000597548.1:n.531-2649A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609823
gene symbol: CTA-125H2.2
hgvsc: ENST00000609823.1:n.279-2649A>G

GenotypeDepth
all individuals: 467
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 333
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8097
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23746
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 1436
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1253
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5561
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14565
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4177
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2011
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29239
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1787
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 421
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1328
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2749
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8244
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8433
bin: 7.5e0
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.238132245320899e-5
allele num: 30882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5208
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.62e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e-1

FS
type: SiteQuality
SIO_000300: 3.304e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.268e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.743e-1

DP
type: SiteQuality
SIO_000300: 7.43534e5

QD
type: SiteQuality
SIO_000300: 7.8e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594542
gene symbol: CTA-125H2.2
hgvsc: ENST00000594542.1:n.534-2653C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609275
gene symbol: CTA-125H2.2
hgvsc: ENST00000609275.1:n.608C>G

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000600211
gene symbol: CTA-125H2.2
hgvsc: ENST00000600211.1:n.396-2653C>G

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000133454
ensembl protein: ENSP00000334563
ensembl transcript: ENST00000335473
gene symbol: MYO18B
hgvsc: ENST00000335473.7:c.4668+13G>C
variant of: http://identifiers.org/hgnc/18150

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000600269
gene symbol: CTA-125H2.2
hgvsc: ENST00000600269.1:n.106-25C>G

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000133454
ensembl protein: ENSP00000386096
ensembl transcript: ENST00000407587
gene symbol: MYO18B
hgvsc: ENST00000407587.2:c.4671+13G>C
variant of: http://identifiers.org/hgnc/18150

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609823
gene symbol: CTA-125H2.2
hgvsc: ENST00000609823.1:n.279-2653C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000453457
gene symbol: CTA-125H2.2
hgvsc: ENST00000453457.3:n.388-25C>G

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23831
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3905
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 458
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5050
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13769
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9502
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1550
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1176
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9850
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2279
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2311
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2641
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27158
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7345
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2733
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 186
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3142
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9276
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3058
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.029220779220779e-4
allele num: 4928
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28932
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.109999999999999e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.89e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.25e-1

DP
type: SiteQuality
SIO_000300: 7.18156e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.037e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609823
gene symbol: CTA-125H2.2
hgvsc: ENST00000609823.1:n.279-2658A>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609275
gene symbol: CTA-125H2.2
hgvsc: ENST00000609275.1:n.603A>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609570
gene symbol: CTA-125H2.2
hgvsc: ENST00000609570.1:n.285A>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609809
gene symbol: CTA-125H2.2
hgvsc: ENST00000609809.1:n.601+1698A>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609889
gene symbol: CTA-125H2.2
hgvsc: ENST00000609889.1:n.489-2658A>T

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000600211
gene symbol: CTA-125H2.2
hgvsc: ENST00000600211.1:n.396-2658A>T

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000133454
ensembl protein: ENSP00000437587
ensembl transcript: ENST00000539302
gene symbol: MYO18B
hgvsc: ENST00000539302.1:c.*2126+18T>A
variant of: http://identifiers.org/hgnc/18150

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597548
gene symbol: CTA-125H2.2
hgvsc: ENST00000597548.1:n.531-2658A>T

GenotypeDepth
all individuals: 337
bin: 4.25e1
variant carriers: 9

GenotypeDepth
all individuals: 1093
bin: 3.25e1
variant carriers: 9

GenotypeDepth
all individuals: 1698
bin: 1.75e1
variant carriers: 35

GenotypeDepth
all individuals: 3626
bin: 2.75e1
variant carriers: 17

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 249
bin: 4.75e1
variant carriers: 9

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 69
bin: 6.25e1
variant carriers: 4

GenotypeDepth
all individuals: 16
bin: 8.75e1
variant carriers: 3

GenotypeDepth
all individuals: 37
bin: 6.75e1
variant carriers: 3

GenotypeDepth
all individuals: 13117
bin: 1.25e1
variant carriers: 99

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 23916
bin: 7.5e0
variant carriers: 92

GenotypeDepth
all individuals: 10481
bin: 2.5e0
variant carriers: 4

GenotypeDepth
all individuals: 125
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 462
bin: 3.75e1
variant carriers: 9

GenotypeDepth
all individuals: 24
bin: 7.75e1
variant carriers: 6

GenotypeDepth
all individuals: 35
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 4752
bin: 2.25e1
variant carriers: 17

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 202
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2698
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 10831
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 5.25e1
variant carriers: 7

GenotypeQuality
all individuals: 194
bin: 9.25e1
variant carriers: 14

GenotypeQuality
all individuals: 26108
bin: 2.25e1
variant carriers: 5

GenotypeQuality
all individuals: 2629
bin: 1.75e1
variant carriers: 4

GenotypeQuality
all individuals: 6846
bin: 6.25e1
variant carriers: 9

GenotypeQuality
all individuals: 2640
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 272
bin: 8.25e1
variant carriers: 10

GenotypeQuality
all individuals: 546
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1360
bin: 9.75e1
variant carriers: 217

GenotypeQuality
all individuals: 972
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2350
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 140
bin: 8.75e1
variant carriers: 17

GenotypeQuality
all individuals: 191
bin: 4.75e1
variant carriers: 5

GenotypeQuality
all individuals: 359
bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 410
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1160
bin: 6.75e1
variant carriers: 6

GenotypeQuality
all individuals: 127
bin: 5.75e1
variant carriers: 13

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3066
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9082
num of homozygotes: 0

African
type: Population
allele count: 223
allele frequency: 4.653589315525877e-2
allele num: 4792
num of homozygotes: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.59660480506402e-5
allele num: 27804
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 3.489183531053733e-3
allele num: 2866
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 4.504504504504504e-3
allele num: 444
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.66e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.83e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-2

QD
type: SiteQuality
SIO_000300: 1.322e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 7.01355e5

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597284
gene symbol: CTA-125H2.2
hgvsc: ENST00000597284.1:n.437-2659G>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000133454
ensembl transcript: ENST00000418374
gene symbol: MYO18B
hgvsc: ENST00000418374.2:n.3239+19C>G
variant of: http://identifiers.org/hgnc/18150

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000453457
gene symbol: CTA-125H2.2
hgvsc: ENST00000453457.3:n.388-31G>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609809
gene symbol: CTA-125H2.2
hgvsc: ENST00000609809.1:n.601+1697G>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608921
gene symbol: CTA-125H2.2
hgvsc: ENST00000608921.1:n.482-31G>C

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000600211
gene symbol: CTA-125H2.2
hgvsc: ENST00000600211.1:n.396-2659G>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609157
gene symbol: CTA-125H2.2
hgvsc: ENST00000609157.1:n.414-31G>C

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000133454
ensembl protein: ENSP00000386096
ensembl transcript: ENST00000407587
gene symbol: MYO18B
hgvsc: ENST00000407587.2:c.4671+19C>G
variant of: http://identifiers.org/hgnc/18150

GenotypeDepth
all individuals: 128
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12943
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10820
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 469
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 336
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3580
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23889
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1715
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1100
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 15
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 242
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4651
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11192
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25835
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6661
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2649
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2377
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2793
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2710
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1171
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 401
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3046
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4662
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2772
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.643783704999271e-5
allele num: 27444
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.85e1

QD
type: SiteQuality
SIO_000300: 8.869999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.12e-1

FS
type: SiteQuality
SIO_000300: 1.702e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.07e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.105e0

DP
type: SiteQuality
SIO_000300: 6.9566e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.075e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000133454
ensembl transcript: ENST00000418374
gene symbol: MYO18B
hgvsc: ENST00000418374.2:n.3239+26delA
variant of: http://identifiers.org/hgnc/18150

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609570
gene symbol: CTA-125H2.2
hgvsc: ENST00000609570.1:n.277delT

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609889
gene symbol: CTA-125H2.2
hgvsc: ENST00000609889.1:n.489-2666delT

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608507
gene symbol: CTA-125H2.2
hgvsc: ENST00000608507.1:n.450-38delT

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000607895
gene symbol: CTA-125H2.2
hgvsc: ENST00000607895.1:n.174-2666delT

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000600211
gene symbol: CTA-125H2.2
hgvsc: ENST00000600211.1:n.396-2666delT

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000133454
ensembl protein: ENSP00000386096
ensembl transcript: ENST00000407587
gene symbol: MYO18B
hgvsc: ENST00000407587.2:c.4671+26delA
variant of: http://identifiers.org/hgnc/18150

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597284
gene symbol: CTA-125H2.2
hgvsc: ENST00000597284.1:n.437-2666delT

GenotypeDepth
all individuals: 36
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 452
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12075
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1014
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 337
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2033
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4093
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23845
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12270
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3292
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 242
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12459
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2640
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2481
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3452
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 233
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5920
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2853
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24169
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.860407659048796e-5
allele num: 25904
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.262e0

MQ
type: SiteQuality
SIO_000300: 5.336e1

DP
type: SiteQuality
SIO_000300: 6.71274e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

QD
type: SiteQuality
SIO_000300: 7.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.34e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 5.643e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.377e0

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000600211
gene symbol: CTA-125H2.2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609275
gene symbol: CTA-125H2.2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594542
gene symbol: CTA-125H2.2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597614
gene symbol: CTA-125H2.2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609820
gene symbol: CTA-125H2.2

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12073
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 339
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 993
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 242
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2245
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12446
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23806
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 446
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3160
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3868
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3785
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23449
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1213
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12825
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5593
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2684
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2568
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2942
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1067
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 324
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2880
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.908998514580564e-5
allele num: 25582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4428
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.177e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.106e0

MQRankSum
type: SiteQuality
SIO_000300: -2.637e0

FS
type: SiteQuality
SIO_000300: 4.771e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

VQSLOD
type: SiteQuality
SIO_000300: -9.223e-1

QD
type: SiteQuality
SIO_000300: 9.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.38e-2

DP
type: SiteQuality
SIO_000300: 6.63017e5

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000453457
gene symbol: CTA-125H2.2
hgvsc: ENST00000453457.3:n.388-44C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000600269
gene symbol: CTA-125H2.2
hgvsc: ENST00000600269.1:n.106-44C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609157
gene symbol: CTA-125H2.2
hgvsc: ENST00000609157.1:n.414-44C>T

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000133454
ensembl protein: ENSP00000441229
ensembl transcript: ENST00000536101
gene symbol: MYO18B
hgvsc: ENST00000536101.1:c.4668+32G>A
variant of: http://identifiers.org/hgnc/18150

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594585
gene symbol: CTA-125H2.2
hgvsc: ENST00000594585.1:n.354-44C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000599080
gene symbol: CTA-125H2.2
hgvsc: ENST00000599080.1:n.473-2672C>T

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000133454
ensembl protein: ENSP00000437587
ensembl transcript: ENST00000539302
gene symbol: MYO18B
hgvsc: ENST00000539302.1:c.*2126+32G>A
variant of: http://identifiers.org/hgnc/18150

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597284
gene symbol: CTA-125H2.2
hgvsc: ENST00000597284.1:n.437-2672C>T

GenotypeDepth
all individuals: 340
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3154
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24109
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 927
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 441
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13384
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10937
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 152
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2683
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3220
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2720
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4967
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19046
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13859
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5072
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 342
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2543
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4274
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.222972972972973e-5
allele num: 23680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4162
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2054
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.35752e5

QD
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.63e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

FS
type: SiteQuality
SIO_000300: 8.641e0

VQSLOD
type: SiteQuality
SIO_000300: -2.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.049e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.71e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597614
gene symbol: CTA-125H2.2
hgvsc: ENST00000597614.2:n.575+951C>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608921
gene symbol: CTA-125H2.2
hgvsc: ENST00000608921.1:n.482-54C>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609823
gene symbol: CTA-125H2.2
hgvsc: ENST00000609823.1:n.279-2682C>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609889
gene symbol: CTA-125H2.2
hgvsc: ENST00000609889.1:n.489-2682C>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597548
gene symbol: CTA-125H2.2
hgvsc: ENST00000597548.1:n.531-2682C>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608507
gene symbol: CTA-125H2.2
hgvsc: ENST00000608507.1:n.450-54C>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609157
gene symbol: CTA-125H2.2
hgvsc: ENST00000609157.1:n.414-54C>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000595102
gene symbol: CTA-125H2.2
hgvsc: ENST00000595102.1:n.454-2682C>A

GenotypeDepth
all individuals: 25301
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 337
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3776
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3086
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2170
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 242
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 835
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 431
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9492
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13674
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6269
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2519
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1359
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6044
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 802
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2846
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1751
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16254
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14151
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3284
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2066
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22036
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.75e0

DP
type: SiteQuality
SIO_000300: 6.13937e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: -3.316e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.76e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.754e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000600269
gene symbol: CTA-125H2.2
hgvsc: ENST00000600269.1:n.105+1459C>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597548
gene symbol: CTA-125H2.2
hgvsc: ENST00000597548.1:n.530+1459C>G

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000133454
ensembl protein: ENSP00000386096
ensembl transcript: ENST00000407587
gene symbol: MYO18B
hgvsc: ENST00000407587.2:c.4672-50G>C
variant of: http://identifiers.org/hgnc/18150

GenotypeDepth
all individuals: 1853
bin: 5.75e1
variant carriers: 5

GenotypeDepth
all individuals: 1183
bin: 6.25e1
variant carriers: 4

GenotypeDepth
all individuals: 3070
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 709
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2669
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9871
bin: 3.25e1
variant carriers: 13

GenotypeDepth
all individuals: 4712
bin: 4.75e1
variant carriers: 4

GenotypeDepth
all individuals: 303
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 8741
bin: 2.75e1
variant carriers: 7

GenotypeDepth
all individuals: 2150
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6770
bin: 4.25e1
variant carriers: 6

GenotypeDepth
all individuals: 2628
bin: 1.75e1
variant carriers: 3

GenotypeDepth
all individuals: 182
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8872
bin: 3.75e1
variant carriers: 10

GenotypeDepth
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 272
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5199
bin: 2.25e1
variant carriers: 4

GenotypeDepth
all individuals: 555
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2284
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1149
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3858
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3712
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1560
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3668
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1325
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4334
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27386
bin: 9.75e1
variant carriers: 66

GenotypeQuality
all individuals: 2350
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3673
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65576
num of homozygotes: 0

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

African
type: Population
allele count: 65
allele frequency: 6.672141244097722e-3
allele num: 9742
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12906
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.478e0

DP
type: SiteQuality
SIO_000300: 2.139487e6

QD
type: SiteQuality
SIO_000300: 1.563e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000600269
gene symbol: CTA-125H2.2
hgvsc: ENST00000600269.1:n.105+1456G>A

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000133454
ensembl protein: ENSP00000441229
ensembl transcript: ENST00000536101
gene symbol: MYO18B
hgvsc: ENST00000536101.1:c.4669-47C>T
variant of: http://identifiers.org/hgnc/18150

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608507
gene symbol: CTA-125H2.2
hgvsc: ENST00000608507.1:n.449+124G>A

GenotypeDepth
all individuals: 447
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5711
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 295
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9982
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1183
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8912
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 711
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 553
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4714
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1943
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6772
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3071
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8783
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2667
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2136
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1849
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3803
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2311
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5400
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3625
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 802
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3738
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1782
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3854
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2367
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27380
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.575123528335265e-5
allele num: 65572
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12884
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.06e1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.964e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.144447e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000599792
gene symbol: CTA-125H2.2
hgvsc: ENST00000599792.1:n.112+1448C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609570
gene symbol: CTA-125H2.2
hgvsc: ENST00000609570.1:n.212+2557C>T

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000133454
ensembl protein: ENSP00000334563
ensembl transcript: ENST00000335473
gene symbol: MYO18B
hgvsc: ENST00000335473.7:c.4669-39G>A
variant of: http://identifiers.org/hgnc/18150

GenotypeDepth
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6789
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3072
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1849
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2391
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 447
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8989
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 553
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6750
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 202
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2098
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8988
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4726
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 677
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10308
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1183
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 711
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2427
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3732
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3994
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2087
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2396
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6855
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27484
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4033
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3824
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65696
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.165501165501166e-4
allele num: 8580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.463e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.8e0

MQ
type: SiteQuality
SIO_000300: 5.882e1

FS
type: SiteQuality
SIO_000300: 1.481e0

QD
type: SiteQuality
SIO_000300: 8.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.098e0

DP
type: SiteQuality
SIO_000300: 2.161987e6

MQRankSum
type: SiteQuality
SIO_000300: -3.56e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609823
gene symbol: CTA-125H2.2
hgvsc: ENST00000609823.1:n.278+1442T>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594856
gene symbol: CTA-125H2.2
hgvsc: ENST00000594856.1:n.369+110T>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608115
gene symbol: CTA-125H2.2
hgvsc: ENST00000608115.1:n.565+110T>C

GenotypeDepth
all individuals: 9113
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9021
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 553
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1967
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 712
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1183
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6976
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6801
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1851
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2112
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10448
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 447
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4733
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3074
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 604
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3776
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4081
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2445
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27538
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 186
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4075
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2452
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7193
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3872
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.039236543780202e-5
allele num: 65806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13390
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.369e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.171166e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.08e-1

QD
type: SiteQuality
SIO_000300: 1.358e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597548
gene symbol: CTA-125H2.2
hgvsc: ENST00000597548.1:n.530+1437G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609570
gene symbol: CTA-125H2.2
hgvsc: ENST00000609570.1:n.212+2546G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608507
gene symbol: CTA-125H2.2
hgvsc: ENST00000608507.1:n.449+105G>A

GenotypeDepth
all individuals: 567
bin: 1.75e1
variant carriers: 5

GenotypeDepth
all individuals: 7227
bin: 2.25e1
variant carriers: 13

GenotypeDepth
all individuals: 1826
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 182
bin: 8.25e1
variant carriers: 10

GenotypeDepth
all individuals: 141
bin: 8.75e1
variant carriers: 14

GenotypeDepth
all individuals: 1828
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9018
bin: 3.75e1
variant carriers: 39

GenotypeDepth
all individuals: 113
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 6820
bin: 4.25e1
variant carriers: 42

GenotypeDepth
all individuals: 10476
bin: 3.25e1
variant carriers: 28

GenotypeDepth
all individuals: 9106
bin: 2.75e1
variant carriers: 10

GenotypeDepth
all individuals: 283
bin: 7.75e1
variant carriers: 15

GenotypeDepth
all individuals: 4756
bin: 4.75e1
variant carriers: 54

GenotypeDepth
all individuals: 452
bin: 7.25e1
variant carriers: 15

GenotypeDepth
all individuals: 107
bin: 9.25e1
variant carriers: 10

GenotypeDepth
all individuals: 720
bin: 6.75e1
variant carriers: 20

GenotypeDepth
all individuals: 1886
bin: 5.75e1
variant carriers: 44

GenotypeDepth
all individuals: 1203
bin: 6.25e1
variant carriers: 36

GenotypeDepth
all individuals: 598
bin: 9.75e1
variant carriers: 64

GenotypeDepth
all individuals: 3111
bin: 5.25e1
variant carriers: 59

GenotypeQuality
all individuals: 3757
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 164
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4067
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1924
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2428
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2452
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27770
bin: 9.75e1
variant carriers: 475

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3861
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7461
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 69
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4041
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 25
allele frequency: 2.170892671066342e-3
allele num: 11516
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.390983000739098e-5
allele num: 13530
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.173708920187793e-3
allele num: 852
num of homozygotes: 0

African
type: Population
allele count: 446
allele frequency: 4.569672131147541e-2
allele num: 9760
num of homozygotes: 13

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

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.734647990033728e-4
allele num: 65822
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.77e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.187414e6

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.441e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597548
gene symbol: CTA-125H2.2
hgvsc: ENST00000597548.1:n.530+1436C>T

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000133454
ensembl protein: ENSP00000386096
ensembl transcript: ENST00000407587
gene symbol: MYO18B
hgvsc: ENST00000407587.2:c.4672-27G>A
variant of: http://identifiers.org/hgnc/18150

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000133454
ensembl protein: ENSP00000437587
ensembl transcript: ENST00000539302
gene symbol: MYO18B
hgvsc: ENST00000539302.1:c.*2127-27G>A
variant of: http://identifiers.org/hgnc/18150

GenotypeDepth
all individuals: 4748
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1736
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9160
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3117
bin: 5.25e1
variant carriers: 4

GenotypeDepth
all individuals: 1784
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7323
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6845
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 727
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1895
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 540
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10501
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 448
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1201
bin: 6.25e1
variant carriers: 3

GenotypeDepth
all individuals: 9022
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 561
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 281
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 188
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4059
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1905
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2462
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27657
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 7633
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2433
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3881
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3762
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4079
bin: 8.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.973644258213396e-4
allele num: 65868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.46e0

FS
type: SiteQuality
SIO_000300: 7.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.01e-1

DP
type: SiteQuality
SIO_000300: 2.186871e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.377e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594856
gene symbol: CTA-125H2.2
hgvsc: ENST00000594856.1:n.369+102C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597284
gene symbol: CTA-125H2.2
hgvsc: ENST00000597284.1:n.436+102C>T

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000133454
ensembl protein: ENSP00000386096
ensembl transcript: ENST00000407587
gene symbol: MYO18B
hgvsc: ENST00000407587.2:c.4672-25G>A
variant of: http://identifiers.org/hgnc/18150

GenotypeDepth
all individuals: 489
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6843
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9030
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 727
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1201
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 448
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 281
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1896
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1603
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10515
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7531
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4750
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1733
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3116
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9180
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4100
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2474
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2450
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7847
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1869
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3778
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3895
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4084
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27687
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13844
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-2

QD
type: SiteQuality
SIO_000300: 1.528e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 6.235e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.781e0

DP
type: SiteQuality
SIO_000300: 2.189468e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000133454
ensembl protein: ENSP00000441229
ensembl transcript: ENST00000536101
gene symbol: MYO18B
hgvsc: ENST00000536101.1:c.4669-15C>T
variant of: http://identifiers.org/hgnc/18150

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594856
gene symbol: CTA-125H2.2
hgvsc: ENST00000594856.1:n.369+92G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000599080
gene symbol: CTA-125H2.2
hgvsc: ENST00000599080.1:n.472+1424G>A

GenotypeDepth
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 368
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1380
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 727
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9331
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6855
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4750
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1201
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3116
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9054
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1157
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8246
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1896
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 447
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10563
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3900
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27706
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1512
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8530
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4162
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2461
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4119
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3795
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2486
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66052
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 2.085360767412763e-4
allele num: 14386
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.201689e6

MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.224e0

QD
type: SiteQuality
SIO_000300: 1.253e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609570
gene symbol: CTA-125H2.2
hgvsc: ENST00000609570.1:n.212+2532A>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594856
gene symbol: CTA-125H2.2
hgvsc: ENST00000594856.1:n.369+91A>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000595102
gene symbol: CTA-125H2.2
hgvsc: ENST00000595102.1:n.453+91A>C

GenotypeDepth
all individuals: 727
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1354
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9339
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8313
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4751
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 362
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10557
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6854
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1117
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1201
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9056
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3116
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1896
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 447
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1486
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2488
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3799
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4184
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8608
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2466
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27705
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3900
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4125
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 3.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14452
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.097e0

FS
type: SiteQuality
SIO_000300: 1.335e0

DP
type: SiteQuality
SIO_000300: 2.202474e6

MQRankSum
type: SiteQuality
SIO_000300: 9.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e-1

QD
type: SiteQuality
SIO_000300: 9.17e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594585
gene symbol: CTA-125H2.2
hgvsc: ENST00000594585.1:n.353+1971A>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594542
gene symbol: CTA-125H2.2
hgvsc: ENST00000594542.1:n.533+85A>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000600269
gene symbol: CTA-125H2.2
hgvsc: ENST00000600269.1:n.105+1417A>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000595102
gene symbol: CTA-125H2.2
hgvsc: ENST00000595102.1:n.453+85A>C

GenotypeDepth
all individuals: 10584
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9057
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 902
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 727
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1896
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 446
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1138
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9440
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3116
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1201
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8654
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 328
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 561
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 188
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4751
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6857
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8976
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4219
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4129
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3808
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2493
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3903
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2480
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27706
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14786
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66188
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.0999e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.995e0

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.075e0

VQSLOD
type: SiteQuality
SIO_000300: -1.198e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.979e1

DP
type: SiteQuality
SIO_000300: 2.208897e6

QD
type: SiteQuality
SIO_000300: 1.286e1

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000600211
gene symbol: CTA-125H2.2
hgvsc: ENST00000600211.1:n.395+1414A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000607895
gene symbol: CTA-125H2.2
hgvsc: ENST00000607895.1:n.173+2063A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594542
gene symbol: CTA-125H2.2
hgvsc: ENST00000594542.1:n.533+82A>G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000599080
gene symbol: CTA-125H2.2
hgvsc: ENST00000599080.1:n.472+1414A>G

GenotypeDepth
all individuals: 1026
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 727
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 311
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6861
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 791
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3116
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9515
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10595
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1201
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1896
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9059
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8803
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 445
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4752
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2496
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27707
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 57
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3904
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9191
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4133
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3806
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2486
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4236
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.021867974657674e-4
allele num: 9786
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14954
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.469e1

FS
type: SiteQuality
SIO_000300: 6.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.96e0

VQSLOD
type: SiteQuality
SIO_000300: -5.513e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

DP
type: SiteQuality
SIO_000300: 2.21247e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.55e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000607895
gene symbol: CTA-125H2.2
hgvsc: ENST00000607895.1:n.173+2058G>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609889
gene symbol: CTA-125H2.2
hgvsc: ENST00000609889.1:n.488+77G>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000595102
gene symbol: CTA-125H2.2
hgvsc: ENST00000595102.1:n.453+77G>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608257
gene symbol: CTA-125H2.2
hgvsc: ENST00000608257.1:n.431+1409G>T

GenotypeDepth
all individuals: 9066
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10631
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 445
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3116
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6862
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9016
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4756
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 615
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9684
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1201
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 289
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 727
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1896
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27709
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 116
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4270
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4129
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9497
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3803
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3905
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2496
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2480
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50779530170984e-5
allele num: 66322
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15282
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -5.06e-2

FS
type: SiteQuality
SIO_000300: 4.264e0

QD
type: SiteQuality
SIO_000300: 1.102e1

MQRankSum
type: SiteQuality
SIO_000300: -6.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.132e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.464e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 2.21936e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000607895
gene symbol: CTA-125H2.2
hgvsc: ENST00000607895.1:n.173+2052C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608115
gene symbol: CTA-125H2.2
hgvsc: ENST00000608115.1:n.565+71C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597548
gene symbol: CTA-125H2.2
hgvsc: ENST00000597548.1:n.530+1403C>T

GenotypeDepth
all individuals: 10641
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9069
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1896
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1201
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 445
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4758
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6864
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 600
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 727
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9327
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3116
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9784
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4130
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 672
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2499
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27716
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3823
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4334
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3905
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9913
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.021033285685113e-4
allele num: 9794
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15620
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66436
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.14e-1

DP
type: SiteQuality
SIO_000300: 2.225086e6

QD
type: SiteQuality
SIO_000300: 1.321e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.07e-1

FS
type: SiteQuality
SIO_000300: 9.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.188e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000599080
gene symbol: CTA-125H2.2
hgvsc: ENST00000599080.1:n.472+1401C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608257
gene symbol: CTA-125H2.2
hgvsc: ENST00000608257.1:n.431+1401C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000607895
gene symbol: CTA-125H2.2
hgvsc: ENST00000607895.1:n.173+2050C>T

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4757
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1201
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9380
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 10658
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 728
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 546
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9824
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3116
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 446
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 280
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9069
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6865
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1896
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2498
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10028
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4132
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27719
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 150
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3825
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3906
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4341
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2492
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 4.083299305839118e-4
allele num: 9796
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66452
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.22688e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.136e0

MQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

QD
type: SiteQuality
SIO_000300: 1.443e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594856
gene symbol: CTA-125H2.2
hgvsc: ENST00000594856.1:n.369+51G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000595102
gene symbol: CTA-125H2.2
hgvsc: ENST00000595102.1:n.453+51G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000600269
gene symbol: CTA-125H2.2
hgvsc: ENST00000600269.1:n.105+1383G>A

GenotypeDepth
all individuals: 6874
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 282
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 729
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9641
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9082
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1895
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 182
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 445
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10237
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1202
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 191
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 4758
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3117
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10756
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4408
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3904
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3833
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27719
bin: 9.75e1
variant carriers: 6

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

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10763
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2502
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4134
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2501
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.00817111271329e-5
allele num: 66576
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16298
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.167e1

FS
type: SiteQuality
SIO_000300: 5.77e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 5.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

DP
type: SiteQuality
SIO_000300: 2.240053e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.63e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594542
gene symbol: CTA-125H2.2
hgvsc: ENST00000594542.1:n.533+50C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597284
gene symbol: CTA-125H2.2
hgvsc: ENST00000597284.1:n.436+50C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609275
gene symbol: CTA-125H2.2
hgvsc: ENST00000609275.1:n.530+50C>T

GenotypeDepth
all individuals: 63
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1899
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 283
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 65
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10268
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10748
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 3118
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1203
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9079
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 729
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9648
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 164
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 448
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 139
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6872
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4758
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4139
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2500
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3838
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10854
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4435
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2509
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27736
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 3905
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.020616452337212e-4
allele num: 9798
num of homozygotes: 0

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

South Asian
type: Population
allele count: 13
allele frequency: 7.953989231522271e-4
allele num: 16344
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501636784094663e-5
allele num: 66594
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.78e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

DP
type: SiteQuality
SIO_000300: 2.240921e6

QD
type: SiteQuality
SIO_000300: 1.22e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000600269
gene symbol: CTA-125H2.2
hgvsc: ENST00000600269.1:n.105+1380C>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609275
gene symbol: CTA-125H2.2
hgvsc: ENST00000609275.1:n.530+48C>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000595102
gene symbol: CTA-125H2.2
hgvsc: ENST00000595102.1:n.453+48C>A

GenotypeDepth
all individuals: 1896
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6870
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10291
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 729
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 564
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9082
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 281
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10745
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1204
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4759
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9674
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3119
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4138
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2510
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10941
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4449
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3905
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3840
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27732
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2501
bin: 8.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.241457e6

VQSLOD
type: SiteQuality
SIO_000300: 1.47e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

MQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.146e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608257
gene symbol: CTA-125H2.2
hgvsc: ENST00000608257.1:n.431+1366G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000595102
gene symbol: CTA-125H2.2
hgvsc: ENST00000595102.1:n.453+34G>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597548
gene symbol: CTA-125H2.2
hgvsc: ENST00000597548.1:n.530+1366G>A

GenotypeDepth
all individuals: 9083
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6874
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4760
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10768
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9713
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10391
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3119
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 729
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1204
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1896
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 449
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 564
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4469
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3839
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3904
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 90
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2501
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11111
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 27731
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4136
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2521
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161170459823502e-4
allele num: 8612
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.265e0

QD
type: SiteQuality
SIO_000300: 2.107e1

FS
type: SiteQuality
SIO_000300: 6.63e0

MQRankSum
type: SiteQuality
SIO_000300: 4.84e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.241e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.23e0

MQ
type: SiteQuality
SIO_000300: 5.818e1

DP
type: SiteQuality
SIO_000300: 2.244254e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000595102
gene symbol: CTA-125H2.2
hgvsc: ENST00000595102.1:n.453+31T>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597548
gene symbol: CTA-125H2.2
hgvsc: ENST00000597548.1:n.530+1363T>A

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000594542
gene symbol: CTA-125H2.2
hgvsc: ENST00000594542.1:n.533+31T>A

GenotypeDepth
all individuals: 78
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10778
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6875
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3120
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4761
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1204
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 729
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1896
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10390
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9725
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 565
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9081
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27734
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2521
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11140
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4475
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3841
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2503
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3904
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4139
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.331e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.262e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e0

MQRankSum
type: SiteQuality
SIO_000300: -4.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.187e0

FS
type: SiteQuality
SIO_000300: 9.109e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

DP
type: SiteQuality
SIO_000300: 2.244675e6

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000600211
gene symbol: CTA-125H2.2
hgvsc: ENST00000600211.1:n.395+1360T>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609570
gene symbol: CTA-125H2.2
hgvsc: ENST00000609570.1:n.212+2469T>C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000608115
gene symbol: CTA-125H2.2
hgvsc: ENST00000608115.1:n.565+28T>C

GenotypeDepth
all individuals: 1896
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4759
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9743
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10393
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3120
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1204
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9083
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 566
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 6876
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 729
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10780
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4137
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2523
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3906
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27733
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3838
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11164
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2502
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4483
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999400119976005e-5
allele num: 66680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.134e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.245061e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.336e1

VQSLOD
type: SiteQuality
SIO_000300: 2.69e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609275
gene symbol: CTA-125H2.2
hgvsc: ENST00000609275.1:n.530+24C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000609889
gene symbol: CTA-125H2.2
hgvsc: ENST00000609889.1:n.488+24C>T

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000231933
ensembl transcript: ENST00000597548
gene symbol: CTA-125H2.2
hgvsc: ENST00000597548.1:n.530+1356C>T

GenotypeDepth
all individuals: 729
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1204
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10781
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1896
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 80
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9085
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9744
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4760
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6877
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 564
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10400
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3120
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 281
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11182
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3905
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27735
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4476
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2524
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4137
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2503
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3837
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.212268153715602e-4
allele num: 16498
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.857e-1

FS
type: SiteQuality
SIO_000300: 3.318e0

QD
type: SiteQuality
SIO_000300: 8.359999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.13e-1

DP
type: SiteQuality
SIO_000300: 2.24528e6