18-47802996-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47802996
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47802996
    reference: chr 18
allele count: 1
allele frequency: 8.49213628180305e-6
allele num: 117756
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.475+36A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.475+36A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.475+36A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.475+36A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.249+36A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.475+36A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.475+36A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.475+36A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.77+36A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.475+36A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.475+36A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.475+36A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.673+36A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.475+36A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.553+36A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.475+36A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.475+36A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.475+36A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.475+36A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.475+36A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.746+36A>G
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

18-47803000-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803000
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47802999
    reference: chr 18
allele count: 1
allele frequency: 8.477881207928515e-6
allele num: 117954
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.673+31delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.475+31delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.475+31delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.553+31delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.475+31delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.475+31delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.249+31delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.475+31delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.475+31delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.746+31delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.475+31delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.475+31delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.77+31delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.475+31delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.475+31delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.475+31delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.475+31delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.475+31delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.475+31delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.475+31delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.475+31delG
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: TC
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

18-47803001-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803001
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803001
    reference: chr 18
allele count: 1
allele frequency: 8.47443263673497e-6
allele num: 118002
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.475+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.475+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.475+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.475+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.673+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.475+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.475+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.475+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.475+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.553+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.475+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.475+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.77+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.249+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.475+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.475+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.746+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.475+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.475+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.475+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.475+31G>A
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

18-47803003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803003
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803003
    reference: chr 18
allele count: 1
allele frequency: 8.471273910170611e-6
allele num: 118046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.475+29G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.475+29G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.475+29G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.475+29G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.553+29G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.475+29G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.475+29G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.475+29G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.249+29G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.475+29G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.475+29G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.475+29G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.475+29G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.77+29G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.673+29G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.475+29G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.475+29G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.475+29G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.475+29G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.746+29G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.475+29G>A
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

18-47803004-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803004
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803004
    reference: chr 18
allele count: 3
allele frequency: 2.53729828478636e-5
allele num: 118236
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.475+28C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.475+28C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.475+28C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.673+28C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.475+28C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.475+28C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.475+28C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.475+28C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.475+28C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.475+28C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.475+28C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.553+28C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.249+28C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.746+28C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.475+28C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.475+28C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.475+28C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.475+28C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.475+28C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.77+28C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.475+28C>T
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

18-47803005-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803005
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803005
    reference: chr 18
allele count: 1
allele frequency: 8.442380751371886e-6
allele num: 118450
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.475+27T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.475+27T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.475+27T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.475+27T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.475+27T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.553+27T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.475+27T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.249+27T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.475+27T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.475+27T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.475+27T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.77+27T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.475+27T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.475+27T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.475+27T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.475+27T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.673+27T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.475+27T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.475+27T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.475+27T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.475+27T>C
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/18-47803009-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803009
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803009
    reference: chr 18
allele count: 1
allele frequency: 8.412976174451474e-6
allele num: 118864
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.475+23G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.475+23G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.553+23G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.475+23G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.673+23G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.475+23G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.77+23G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.475+23G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.475+23G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.475+23G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.475+23G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.249+23G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.475+23G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.475+23G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.475+23G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.475+23G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.475+23G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.475+23G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.475+23G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.475+23G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.475+23G>T
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

18-47803012-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803012
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803012
    reference: chr 18
allele count: 2
allele frequency: 1.678331067586392e-5
allele num: 119166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.475+20T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.475+20T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.475+20T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.475+20T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.475+20T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.475+20T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.553+20T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.475+20T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.77+20T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.475+20T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.475+20T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.475+20T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.673+20T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.475+20T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.475+20T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.475+20T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.475+20T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.746+20T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.475+20T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.249+20T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.475+20T>C
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

18-47803022-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803022
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803022
    reference: chr 18
allele count: 1
allele frequency: 8.335834083558401e-6
allele num: 119964
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.475+10C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.475+10C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.673+10C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.475+10C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.746+10C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.475+10C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.553+10C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.475+10C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.475+10C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.475+10C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.475+10C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.249+10C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.475+10C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.475+10C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.475+10C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.475+10C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.475+10C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.77+10C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.475+10C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.475+10C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.475+10C>G
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/18-47803029-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803029
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803029
    reference: chr 18
allele count: 1
allele frequency: 8.311722853913159e-6
allele num: 120312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.475+3G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.77+3G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.475+3G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.475+3G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.475+3G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.475+3G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.475+3G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.249+3G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.553+3G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.475+3G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.475+3G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.673+3G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.475+3G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.475+3G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.475+3G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.475+3G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.475+3G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.475+3G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.475+3G>T
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.475+3G>T
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

18-47803034-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803034
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803034
    reference: chr 18
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.473G>C
  hgvsp: ENSP00000381502.1:p.Arg158Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.473G>C
  hgvsp: ENSP00000269469.5:p.Arg158Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.473G>C
  hgvsp: ENSP00000465923.1:p.Arg158Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.473G>C
  hgvsp: ENSP00000381508.2:p.Arg158Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.75G>C
  hgvsp: ENSP00000466429.1:p.Arg26Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.473G>C
  hgvsp: ENSP00000409561.1:p.Arg158Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.473G>C
  hgvsp: ENSP00000405268.2:p.Arg158Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.473G>C
  hgvsp: ENSP00000269471.5:p.Arg158Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.473G>C
  hgvsp: ENSP00000285102.5:p.Arg158Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.473G>C
  hgvsp: ENSP00000269468.5:p.Arg158Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.473G>C
  hgvsp: ENSP00000468430.1:p.Arg158Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.671G>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.247G>C
  hgvsp: ENSP00000467606.1:p.Arg83Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.473G>C
  hgvsp: ENSP00000468785.1:p.Arg158Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.473G>C
  hgvsp: ENSP00000468042.1:p.Arg158Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.551G>C
  hgvsp: ENSP00000408846.2:p.Arg184Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.473G>C
  hgvsp: ENSP00000467763.1:p.Arg158Pro
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg158Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

18-47803035-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803035
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803035
    reference: chr 18
allele count: 1
allele frequency: 8.290636555074699e-6
allele num: 120618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.246C>T
  hgvsp: ENSP00000467606.1:p.Arg83Ter
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.74C>T
  hgvsp: ENSP00000466429.1:p.Arg26Ter
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.472C>T
  hgvsp: ENSP00000468785.1:p.Arg158Ter
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.550C>T
  hgvsp: ENSP00000408846.2:p.Arg184Ter
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.472C>T
  hgvsp: ENSP00000381502.1:p.Arg158Ter
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.472C>T
  hgvsp: ENSP00000269468.5:p.Arg158Ter
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.472C>T
  hgvsp: ENSP00000468430.1:p.Arg158Ter
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.472C>T
  hgvsp: ENSP00000285102.5:p.Arg158Ter
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.472C>T
  hgvsp: ENSP00000381508.2:p.Arg158Ter
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.472C>T
  hgvsp: ENSP00000467763.1:p.Arg158Ter
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.743C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.670C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.472C>T
  hgvsp: ENSP00000468042.1:p.Arg158Ter
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.472C>T
  hgvsp: ENSP00000465923.1:p.Arg158Ter
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.472C>T
  hgvsp: ENSP00000342531.2:p.Arg158Ter
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.472C>T
  hgvsp: ENSP00000405268.2:p.Arg158Ter
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.472C>T
  hgvsp: ENSP00000269471.5:p.Arg158Ter
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.472C>T
  hgvsp: ENSP00000381506.1:p.Arg158Ter
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.472C>T
  hgvsp: ENSP00000466092.1:p.Arg158Ter
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg158Ter
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP

18-47803048-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803048
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803048
    reference: chr 18
allele count: 1
allele frequency: 8.258593066085262e-6
allele num: 121086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.537G>A
  hgvsp: ENST00000424334.2:c.537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.459G>A
  hgvsp: ENST00000398488.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.459G>A
  hgvsp: ENST00000588937.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.61G>A
  hgvsp: ENST00000589733.1:c.61G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.459G>A
  hgvsp: ENST00000382948.5:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.459G>A
  hgvsp: ENST00000269471.5:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.459G>A
  hgvsp: ENST00000339998.6:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.459G>A
  hgvsp: ENST00000353909.3:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.233G>A
  hgvsp: ENST00000592060.1:c.233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.459G>A
  hgvsp: ENST00000347968.3:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.459G>A
  hgvsp: ENST00000398493.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.459G>A
  hgvsp: ENST00000585595.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.459G>A
  hgvsp: ENST00000269468.5:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.459G>A
  hgvsp: ENST00000587605.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.459G>A
  hgvsp: ENST00000590208.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.459G>A
  hgvsp: ENST00000398495.2:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.657G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.730G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.459G>A
  hgvsp: ENST00000457839.2:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu153Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

18-47803050-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803050
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803050
    reference: chr 18
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.457T>C
  hgvsp: ENST00000398488.1:c.457T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.535T>C
  hgvsp: ENST00000424334.2:c.535T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.457T>C
  hgvsp: ENST00000588937.1:c.457T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.457T>C
  hgvsp: ENST00000269468.5:c.457T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.457T>C
  hgvsp: ENST00000398493.1:c.457T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.457T>C
  hgvsp: ENST00000457839.2:c.457T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.457T>C
  hgvsp: ENST00000585595.1:c.457T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.457T>C
  hgvsp: ENST00000398495.2:c.457T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.457T>C
  hgvsp: ENST00000436910.1:c.457T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.59T>C
  hgvsp: ENST00000589733.1:c.59T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.457T>C
  hgvsp: ENST00000591535.1:c.457T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.457T>C
  hgvsp: ENST00000353909.3:c.457T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.457T>C
  hgvsp: ENST00000591416.1:c.457T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.457T>C
  hgvsp: ENST00000587605.1:c.457T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.457T>C
  hgvsp: ENST00000269471.5:c.457T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.655T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.457T>C
  hgvsp: ENST00000339998.6:c.457T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.457T>C
  hgvsp: ENST00000382948.5:c.457T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.231T>C
  hgvsp: ENST00000592060.1:c.231T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu153Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

18-47803051-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803051
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803051
    reference: chr 18
allele count: 2
allele frequency: 1.651091371396493e-5
allele num: 121132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.456G>A
  hgvsp: ENST00000398488.1:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.456G>A
  hgvsp: ENST00000269468.5:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.456G>A
  hgvsp: ENST00000269471.5:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.456G>A
  hgvsp: ENST00000585595.1:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.727G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.456G>A
  hgvsp: ENST00000591416.1:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.534G>A
  hgvsp: ENST00000424334.2:c.534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.456G>A
  hgvsp: ENST00000398495.2:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.456G>A
  hgvsp: ENST00000347968.3:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.456G>A
  hgvsp: ENST00000585672.1:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.456G>A
  hgvsp: ENST00000587605.1:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.456G>A
  hgvsp: ENST00000382948.5:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.58G>A
  hgvsp: ENST00000589733.1:c.58G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.456G>A
  hgvsp: ENST00000457839.2:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.456G>A
  hgvsp: ENST00000436910.1:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.230G>A
  hgvsp: ENST00000592060.1:c.230G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.456G>A
  hgvsp: ENST00000590208.1:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.456G>A
  hgvsp: ENST00000588937.1:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.456G>A
  hgvsp: ENST00000349085.2:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr152Thr
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

18-47803052-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803052
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803052
    reference: chr 18
allele count: 3
allele frequency: 2.476269087907552e-5
allele num: 121150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.455C>T
  hgvsp: ENSP00000467763.1:p.Thr152Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.455C>T
  hgvsp: ENSP00000342531.2:p.Thr152Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.57C>T
  hgvsp: ENSP00000466429.1:p.Thr20Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.455C>T
  hgvsp: ENSP00000465923.1:p.Thr152Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.533C>T
  hgvsp: ENSP00000408846.2:p.Thr178Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.455C>T
  hgvsp: ENSP00000285102.5:p.Thr152Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.229C>T
  hgvsp: ENSP00000467606.1:p.Thr77Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.455C>T
  hgvsp: ENSP00000381502.1:p.Thr152Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.455C>T
  hgvsp: ENSP00000468785.1:p.Thr152Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.455C>T
  hgvsp: ENSP00000468430.1:p.Thr152Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.455C>T
  hgvsp: ENSP00000269469.5:p.Thr152Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.455C>T
  hgvsp: ENSP00000467017.1:p.Thr152Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.455C>T
  hgvsp: ENSP00000269471.5:p.Thr152Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.455C>T
  hgvsp: ENSP00000468042.1:p.Thr152Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.455C>T
  hgvsp: ENSP00000269468.5:p.Thr152Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.455C>T
  hgvsp: ENSP00000466092.1:p.Thr152Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.455C>T
  hgvsp: ENSP00000381506.1:p.Thr152Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.726C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.653C>T
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr152Met
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

18-47803057-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803057
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803057
    reference: chr 18
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.450C>G
  hgvsp: ENST00000347968.3:c.450C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.450C>G
  hgvsp: ENST00000269468.5:c.450C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.450C>G
  hgvsp: ENST00000590208.1:c.450C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.450C>G
  hgvsp: ENST00000398488.1:c.450C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.450C>G
  hgvsp: ENST00000588937.1:c.450C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.450C>G
  hgvsp: ENST00000398493.1:c.450C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.648C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.450C>G
  hgvsp: ENST00000585595.1:c.450C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.450C>G
  hgvsp: ENST00000585672.1:c.450C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.450C>G
  hgvsp: ENST00000587605.1:c.450C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.450C>G
  hgvsp: ENST00000339998.6:c.450C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.450C>G
  hgvsp: ENST00000436910.1:c.450C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.450C>G
  hgvsp: ENST00000269471.5:c.450C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.52C>G
  hgvsp: ENST00000589733.1:c.52C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.450C>G
  hgvsp: ENST00000591416.1:c.450C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.528C>G
  hgvsp: ENST00000424334.2:c.528C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.721C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.450C>G
  hgvsp: ENST00000349085.2:c.450C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.450C>G
  hgvsp: ENST00000591535.1:c.450C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu150Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

18-47803058-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803058
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803058
    reference: chr 18
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.449T>C
  hgvsp: ENSP00000466092.1:p.Leu150Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.449T>C
  hgvsp: ENSP00000468430.1:p.Leu150Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.449T>C
  hgvsp: ENSP00000468042.1:p.Leu150Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.449T>C
  hgvsp: ENSP00000468785.1:p.Leu150Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.449T>C
  hgvsp: ENSP00000372407.5:p.Leu150Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.449T>C
  hgvsp: ENSP00000269471.5:p.Leu150Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.527T>C
  hgvsp: ENSP00000408846.2:p.Leu176Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.449T>C
  hgvsp: ENSP00000381506.1:p.Leu150Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.647T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.449T>C
  hgvsp: ENSP00000381502.1:p.Leu150Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.720T>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.449T>C
  hgvsp: ENSP00000467763.1:p.Leu150Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.449T>C
  hgvsp: ENSP00000409561.1:p.Leu150Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.449T>C
  hgvsp: ENSP00000405268.2:p.Leu150Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.449T>C
  hgvsp: ENSP00000269468.5:p.Leu150Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.449T>C
  hgvsp: ENSP00000269469.5:p.Leu150Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.449T>C
  hgvsp: ENSP00000465923.1:p.Leu150Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.51T>C
  hgvsp: ENSP00000466429.1:p.Leu18Pro
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.449T>C
  hgvsp: ENSP00000342531.2:p.Leu150Pro
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu150Pro
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

18-47803059-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803059
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803059
    reference: chr 18
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.448C>T
  hgvsp: ENSP00000269468.5:p.Leu150Phe
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.448C>T
  hgvsp: ENSP00000466092.1:p.Leu150Phe
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.448C>T
  hgvsp: ENSP00000468430.1:p.Leu150Phe
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.448C>T
  hgvsp: ENSP00000467763.1:p.Leu150Phe
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.50C>T
  hgvsp: ENSP00000466429.1:p.Leu18Phe
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.448C>T
  hgvsp: ENSP00000409561.1:p.Leu150Phe
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.526C>T
  hgvsp: ENSP00000408846.2:p.Leu176Phe
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.448C>T
  hgvsp: ENSP00000285102.5:p.Leu150Phe
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.448C>T
  hgvsp: ENSP00000468042.1:p.Leu150Phe
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.448C>T
  hgvsp: ENSP00000465923.1:p.Leu150Phe
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.448C>T
  hgvsp: ENSP00000381508.2:p.Leu150Phe
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.448C>T
  hgvsp: ENSP00000342531.2:p.Leu150Phe
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.448C>T
  hgvsp: ENSP00000468785.1:p.Leu150Phe
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.719C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.448C>T
  hgvsp: ENSP00000269471.5:p.Leu150Phe
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.448C>T
  hgvsp: ENSP00000405268.2:p.Leu150Phe
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.448C>T
  hgvsp: ENSP00000339546.5:p.Leu150Phe
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.448C>T
  hgvsp: ENSP00000269469.5:p.Leu150Phe
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.448C>T
  hgvsp: ENSP00000381506.1:p.Leu150Phe
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu150Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/18-47803060-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803060
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803060
    reference: chr 18
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.447G>T
  hgvsp: ENST00000347968.3:c.447G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.447G>T
  hgvsp: ENST00000591535.1:c.447G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.447G>T
  hgvsp: ENST00000398488.1:c.447G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.447G>T
  hgvsp: ENST00000585595.1:c.447G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.447G>T
  hgvsp: ENST00000588937.1:c.447G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.447G>T
  hgvsp: ENST00000585672.1:c.447G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.447G>T
  hgvsp: ENST00000269471.5:c.447G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.221G>T
  hgvsp: ENST00000592060.1:c.221G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.447G>T
  hgvsp: ENST00000353909.3:c.447G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.718G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.447G>T
  hgvsp: ENST00000587605.1:c.447G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.447G>T
  hgvsp: ENST00000339998.6:c.447G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.447G>T
  hgvsp: ENST00000398493.1:c.447G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.49G>T
  hgvsp: ENST00000589733.1:c.49G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.645G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.447G>T
  hgvsp: ENST00000269468.5:c.447G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.447G>T
  hgvsp: ENST00000457839.2:c.447G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.525G>T
  hgvsp: ENST00000424334.2:c.525G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.447G>T
  hgvsp: ENST00000398495.2:c.447G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg149Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

18-47803062-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803062
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803062
    reference: chr 18
allele count: 38
allele frequency: 3.133245382585752e-4
allele num: 121280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.219C>A
  hgvsp: ENST00000592060.1:c.219C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.445C>A
  hgvsp: ENST00000398488.1:c.445C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.445C>A
  hgvsp: ENST00000269471.5:c.445C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.445C>A
  hgvsp: ENST00000587605.1:c.445C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.445C>A
  hgvsp: ENST00000347968.3:c.445C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.445C>A
  hgvsp: ENST00000398495.2:c.445C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.445C>A
  hgvsp: ENST00000590208.1:c.445C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.445C>A
  hgvsp: ENST00000269468.5:c.445C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.523C>A
  hgvsp: ENST00000424334.2:c.523C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.445C>A
  hgvsp: ENST00000585595.1:c.445C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.47C>A
  hgvsp: ENST00000589733.1:c.47C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.445C>A
  hgvsp: ENST00000591535.1:c.445C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.445C>A
  hgvsp: ENST00000457839.2:c.445C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.445C>A
  hgvsp: ENST00000398493.1:c.445C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.445C>A
  hgvsp: ENST00000382948.5:c.445C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.716C>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.445C>A
  hgvsp: ENST00000349085.2:c.445C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.643C>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.445C>A
  hgvsp: ENST00000588937.1:c.445C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg149Arg
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

18-47803062-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803062
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803062
    reference: chr 18
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.445C>T
  hgvsp: ENSP00000468042.1:p.Arg149Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.523C>T
  hgvsp: ENSP00000408846.2:p.Arg175Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.445C>T
  hgvsp: ENSP00000339546.5:p.Arg149Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.643C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.445C>T
  hgvsp: ENSP00000269471.5:p.Arg149Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.445C>T
  hgvsp: ENSP00000468430.1:p.Arg149Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.445C>T
  hgvsp: ENSP00000409561.1:p.Arg149Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.445C>T
  hgvsp: ENSP00000465923.1:p.Arg149Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.445C>T
  hgvsp: ENSP00000405268.2:p.Arg149Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.445C>T
  hgvsp: ENSP00000372407.5:p.Arg149Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.445C>T
  hgvsp: ENSP00000468785.1:p.Arg149Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.445C>T
  hgvsp: ENSP00000381506.1:p.Arg149Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.47C>T
  hgvsp: ENSP00000466429.1:p.Arg17Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.445C>T
  hgvsp: ENSP00000269468.5:p.Arg149Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.445C>T
  hgvsp: ENSP00000467017.1:p.Arg149Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.445C>T
  hgvsp: ENSP00000285102.5:p.Arg149Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.445C>T
  hgvsp: ENSP00000381502.1:p.Arg149Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.445C>T
  hgvsp: ENSP00000467763.1:p.Arg149Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.716C>T
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg149Trp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

18-47803066-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803066
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803066
    reference: chr 18
allele count: 88
allele frequency: 7.253903094449116e-4
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.441G>A
  hgvsp: ENST00000591416.1:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.43G>A
  hgvsp: ENST00000589733.1:c.43G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.441G>A
  hgvsp: ENST00000269471.5:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.441G>A
  hgvsp: ENST00000588937.1:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.441G>A
  hgvsp: ENST00000347968.3:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.441G>A
  hgvsp: ENST00000585595.1:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.441G>A
  hgvsp: ENST00000398495.2:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.441G>A
  hgvsp: ENST00000398493.1:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.441G>A
  hgvsp: ENST00000457839.2:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.441G>A
  hgvsp: ENST00000590208.1:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.519G>A
  hgvsp: ENST00000424334.2:c.519G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.441G>A
  hgvsp: ENST00000585672.1:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.441G>A
  hgvsp: ENST00000591535.1:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.441G>A
  hgvsp: ENST00000398488.1:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.441G>A
  hgvsp: ENST00000436910.1:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.441G>A
  hgvsp: ENST00000587605.1:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.441G>A
  hgvsp: ENST00000353909.3:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.441G>A
  hgvsp: ENST00000349085.2:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.441G>A
  hgvsp: ENST00000269468.5:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg147Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

18-47803069-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803069
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803069
    reference: chr 18
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.212A>G
  hgvsp: ENST00000592060.1:c.212A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.438A>G
  hgvsp: ENST00000347968.3:c.438A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.438A>G
  hgvsp: ENST00000588937.1:c.438A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.438A>G
  hgvsp: ENST00000382948.5:c.438A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.438A>G
  hgvsp: ENST00000591535.1:c.438A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.438A>G
  hgvsp: ENST00000398493.1:c.438A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.636A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.438A>G
  hgvsp: ENST00000353909.3:c.438A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.438A>G
  hgvsp: ENST00000349085.2:c.438A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.438A>G
  hgvsp: ENST00000587605.1:c.438A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.438A>G
  hgvsp: ENST00000398495.2:c.438A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.438A>G
  hgvsp: ENST00000269471.5:c.438A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.438A>G
  hgvsp: ENST00000585672.1:c.438A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.516A>G
  hgvsp: ENST00000424334.2:c.516A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.438A>G
  hgvsp: ENST00000339998.6:c.438A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.438A>G
  hgvsp: ENST00000457839.2:c.438A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.40A>G
  hgvsp: ENST00000589733.1:c.40A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.438A>G
  hgvsp: ENST00000591416.1:c.438A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.438A>G
  hgvsp: ENST00000398488.1:c.438A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln146Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

18-47803071-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803071
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803071
    reference: chr 18
allele count: 2
allele frequency: 1.648233917357551e-5
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.436C>G
  hgvsp: ENSP00000381502.1:p.Gln146Glu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.436C>G
  hgvsp: ENSP00000381508.2:p.Gln146Glu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.436C>G
  hgvsp: ENSP00000468785.1:p.Gln146Glu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.436C>G
  hgvsp: ENSP00000468430.1:p.Gln146Glu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.436C>G
  hgvsp: ENSP00000467763.1:p.Gln146Glu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.436C>G
  hgvsp: ENSP00000468042.1:p.Gln146Glu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.436C>G
  hgvsp: ENSP00000269469.5:p.Gln146Glu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.38C>G
  hgvsp: ENSP00000466429.1:p.Gln14Glu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.436C>G
  hgvsp: ENSP00000339546.5:p.Gln146Glu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.436C>G
  hgvsp: ENSP00000285102.5:p.Gln146Glu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.514C>G
  hgvsp: ENSP00000408846.2:p.Gln172Glu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.436C>G
  hgvsp: ENSP00000269471.5:p.Gln146Glu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.436C>G
  hgvsp: ENSP00000467017.1:p.Gln146Glu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.436C>G
  hgvsp: ENSP00000465923.1:p.Gln146Glu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.436C>G
  hgvsp: ENSP00000269468.5:p.Gln146Glu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.436C>G
  hgvsp: ENSP00000381506.1:p.Gln146Glu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.436C>G
  hgvsp: ENSP00000409561.1:p.Gln146Glu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.707C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.210C>G
  hgvsp: ENSP00000467606.1:p.Gln71Glu
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln146Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

18-47803087-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803087
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803087
    reference: chr 18
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.194C>T
  hgvsp: ENST00000592060.1:c.194C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.420C>T
  hgvsp: ENST00000269471.5:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.420C>T
  hgvsp: ENST00000457839.2:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.420C>T
  hgvsp: ENST00000588937.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.420C>T
  hgvsp: ENST00000587605.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.420C>T
  hgvsp: ENST00000398495.2:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.498C>T
  hgvsp: ENST00000424334.2:c.498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.420C>T
  hgvsp: ENST00000353909.3:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.691C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.420C>T
  hgvsp: ENST00000591416.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.420C>T
  hgvsp: ENST00000398488.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.420C>T
  hgvsp: ENST00000339998.6:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.420C>T
  hgvsp: ENST00000269468.5:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.420C>T
  hgvsp: ENST00000347968.3:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.420C>T
  hgvsp: ENST00000398493.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.22C>T
  hgvsp: ENST00000589733.1:c.22C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.420C>T
  hgvsp: ENST00000436910.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000464823
  ensembl transcript: ENST00000590215
  gene symbol: MBD1
  hgvsc: ENST00000590215.1:c.*277C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.420C>T
  hgvsp: ENST00000590208.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe140Phe
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

18-47803102-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803102
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803102
    reference: chr 18
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.405C>T
  hgvsp: ENST00000382948.5:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.405C>T
  hgvsp: ENST00000436910.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.405C>T
  hgvsp: ENST00000591535.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.405C>T
  hgvsp: ENST00000269471.5:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.405C>T
  hgvsp: ENST00000591416.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466429
  ensembl transcript: ENST00000589733
  gene symbol: MBD1
  hgvsc: ENST00000589733.1:c.7C>T
  hgvsp: ENST00000589733.1:c.7C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.179C>T
  hgvsp: ENST00000592060.1:c.179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.405C>T
  hgvsp: ENST00000353909.3:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.405C>T
  hgvsp: ENST00000269468.5:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.405C>T
  hgvsp: ENST00000590208.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.483C>T
  hgvsp: ENST00000424334.2:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.405C>T
  hgvsp: ENST00000339998.6:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.405C>T
  hgvsp: ENST00000457839.2:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.405C>T
  hgvsp: ENST00000398493.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.405C>T
  hgvsp: ENST00000585595.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.405C>T
  hgvsp: ENST00000587605.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000464823
  ensembl transcript: ENST00000590215
  gene symbol: MBD1
  hgvsc: ENST00000590215.1:c.*262C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.405C>T
  hgvsp: ENST00000588937.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.405C>T
  hgvsp: ENST00000398488.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn135Asn
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

18-47803134-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803134
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803134
    reference: chr 18
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.644A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.393-20A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.393-20A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.393-20A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.393-20A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.571A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.393-20A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.393-20A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.393-20A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.393-20A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.393-20A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000464823
  ensembl transcript: ENST00000590215
  gene symbol: MBD1
  hgvsc: ENST00000590215.1:c.*250-20A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.393-20A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.167-20A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.393-20A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.393-20A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.393-20A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.471-20A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.393-20A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.393-20A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.393-20A>G
  variant of: http://identifiers.org/hgnc/6916
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/18-47803151-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803151
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803150
    reference: chr 18
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.393-38delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.393-38delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.553delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.393-38delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.393-38delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.393-38delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.393-38delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.626delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.393-38delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.393-38delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.393-38delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000464823
  ensembl transcript: ENST00000590215
  gene symbol: MBD1
  hgvsc: ENST00000590215.1:c.*250-38delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.167-38delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.393-38delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.471-38delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.393-38delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.393-38delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.393-38delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.393-38delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.393-38delG
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.393-38delG
  variant of: http://identifiers.org/hgnc/6916
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
reference allele: AC
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/18-47803152-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803152
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803152
    reference: chr 18
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.393-38G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.393-38G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.393-38G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.393-38G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.626G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.393-38G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.393-38G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.393-38G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.393-38G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.471-38G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.393-38G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.393-38G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.393-38G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.553G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.167-38G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.393-38G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.393-38G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.393-38G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.393-38G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000464823
  ensembl transcript: ENST00000590215
  gene symbol: MBD1
  hgvsc: ENST00000590215.1:c.*250-38G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.393-38G>T
  variant of: http://identifiers.org/hgnc/6916
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

18-47803155-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803155
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803155
    reference: chr 18
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.550G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.393-41G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.393-41G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.393-41G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.393-41G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.393-41G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.393-41G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.393-41G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.393-41G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.393-41G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.471-41G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.167-41G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.393-41G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.393-41G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.623G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.393-41G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.393-41G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.393-41G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.393-41G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.393-41G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.393-41G>A
  variant of: http://identifiers.org/hgnc/6916
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

18-47803165-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803165
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803165
    reference: chr 18
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.392+37G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.392+37G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.392+37G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.392+37G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.392+37G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.392+37G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.392+37G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.540G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.392+37G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.392+37G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.392+37G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.613G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.392+37G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.392+37G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.392+37G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.392+37G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.392+37G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.392+37G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.470+37G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.392+37G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.392+37G>A
  variant of: http://identifiers.org/hgnc/6916
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/18-47803166-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803166
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803166
    reference: chr 18
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.392+36G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.392+36G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.470+36G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.392+36G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.392+36G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.392+36G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.166+36G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.392+36G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.392+36G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.392+36G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.392+36G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.612G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.392+36G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.392+36G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000464823
  ensembl transcript: ENST00000590215
  gene symbol: MBD1
  hgvsc: ENST00000590215.1:c.*249+36G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.539G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.392+36G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.392+36G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.392+36G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.392+36G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.392+36G>T
  variant of: http://identifiers.org/hgnc/6916
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

18-47803171-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803171
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803171
    reference: chr 18
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.392+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.392+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.607G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.534G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.392+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.392+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.392+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.392+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.392+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.392+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.392+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.166+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.392+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.392+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.392+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000464823
  ensembl transcript: ENST00000590215
  gene symbol: MBD1
  hgvsc: ENST00000590215.1:c.*249+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.392+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.470+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.392+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.392+31G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.392+31G>A
  variant of: http://identifiers.org/hgnc/6916
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD

18-47803179-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803179
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803179
    reference: chr 18
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.392+23C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.392+23C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.392+23C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.526C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.166+23C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.392+23C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.470+23C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.392+23C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.392+23C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.392+23C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.392+23C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.392+23C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.599C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.392+23C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.392+23C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.392+23C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.392+23C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.392+23C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.392+23C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.392+23C>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000464823
  ensembl transcript: ENST00000590215
  gene symbol: MBD1
  hgvsc: ENST00000590215.1:c.*249+23C>G
  variant of: http://identifiers.org/hgnc/6916
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum

18-47803179-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803179
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803179
    reference: chr 18
allele count: 46
allele frequency: 3.788877174486031e-4
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.392+23C>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.392+23C>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.392+23C>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.392+23C>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.599C>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.392+23C>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000464823
  ensembl transcript: ENST00000590215
  gene symbol: MBD1
  hgvsc: ENST00000590215.1:c.*249+23C>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.392+23C>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.392+23C>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.392+23C>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.392+23C>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.392+23C>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.166+23C>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.392+23C>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.392+23C>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.392+23C>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.526C>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.392+23C>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.392+23C>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.392+23C>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.470+23C>A
  variant of: http://identifiers.org/hgnc/6916
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

18-47803180-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803180
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803180
    reference: chr 18
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.392+22G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.392+22G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.392+22G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.392+22G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.392+22G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.392+22G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.392+22G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.470+22G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.392+22G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.392+22G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.392+22G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000464823
  ensembl transcript: ENST00000590215
  gene symbol: MBD1
  hgvsc: ENST00000590215.1:c.*249+22G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.392+22G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.598G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.392+22G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.392+22G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.525G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.392+22G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.392+22G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.392+22G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.166+22G>A
  variant of: http://identifiers.org/hgnc/6916
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

18-47803187-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803187
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803187
    reference: chr 18
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.392+15A>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.392+15A>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000464823
  ensembl transcript: ENST00000590215
  gene symbol: MBD1
  hgvsc: ENST00000590215.1:c.*249+15A>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.166+15A>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.392+15A>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.591A>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.392+15A>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.392+15A>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.392+15A>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.392+15A>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.392+15A>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.392+15A>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.518A>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.392+15A>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.392+15A>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.470+15A>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.392+15A>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.392+15A>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.392+15A>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.392+15A>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.392+15A>T
  variant of: http://identifiers.org/hgnc/6916
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/18-47803190-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803190
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803190
    reference: chr 18
allele count: 5
allele frequency: 4.118412599047823e-5
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.392+12T>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.392+12T>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.392+12T>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.392+12T>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.588T>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.392+12T>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.515T>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000464823
  ensembl transcript: ENST00000590215
  gene symbol: MBD1
  hgvsc: ENST00000590215.1:c.*249+12T>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.392+12T>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.470+12T>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.392+12T>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.392+12T>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.392+12T>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.392+12T>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.392+12T>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.392+12T>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.392+12T>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.392+12T>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.166+12T>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.392+12T>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.392+12T>G
  variant of: http://identifiers.org/hgnc/6916
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/18-47803195-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803195
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803195
    reference: chr 18
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.392+7G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.392+7G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.392+7G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.166+7G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.392+7G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.392+7G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.392+7G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.392+7G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.392+7G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.583G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.510G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.470+7G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.392+7G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.392+7G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.392+7G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.392+7G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.392+7G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.392+7G>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.392+7G>T
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.392+7G>T
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

18-47803208-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803208
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803208
    reference: chr 18
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.386C>T
  hgvsp: ENSP00000381502.1:p.Ala129Val
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.386C>T
  hgvsp: ENSP00000285102.5:p.Ala129Val
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.386C>T
  hgvsp: ENSP00000269468.5:p.Ala129Val
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.386C>T
  hgvsp: ENSP00000467017.1:p.Ala129Val
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.464C>T
  hgvsp: ENSP00000408846.2:p.Ala155Val
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.570C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.386C>T
  hgvsp: ENSP00000381508.2:p.Ala129Val
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.386C>T
  hgvsp: ENSP00000468042.1:p.Ala129Val
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.386C>T
  hgvsp: ENSP00000269469.5:p.Ala129Val
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.386C>T
  hgvsp: ENSP00000409561.1:p.Ala129Val
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.386C>T
  hgvsp: ENSP00000468430.1:p.Ala129Val
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.386C>T
  hgvsp: ENSP00000339546.5:p.Ala129Val
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.386C>T
  hgvsp: ENSP00000468785.1:p.Ala129Val
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.386C>T
  hgvsp: ENSP00000466092.1:p.Ala129Val
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.497C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.386C>T
  hgvsp: ENSP00000342531.2:p.Ala129Val
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.386C>T
  hgvsp: ENSP00000269471.5:p.Ala129Val
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.386C>T
  hgvsp: ENSP00000372407.5:p.Ala129Val
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.386C>T
  hgvsp: ENSP00000467763.1:p.Ala129Val
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala129Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

18-47803213-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803213
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803213
    reference: chr 18
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.381C>T
  hgvsp: ENST00000588937.1:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.381C>T
  hgvsp: ENST00000591416.1:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.381C>T
  hgvsp: ENST00000269471.5:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.381C>T
  hgvsp: ENST00000398488.1:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.381C>T
  hgvsp: ENST00000436910.1:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.381C>T
  hgvsp: ENST00000353909.3:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.381C>T
  hgvsp: ENST00000269468.5:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.155C>T
  hgvsp: ENST00000592060.1:c.155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.381C>T
  hgvsp: ENST00000349085.2:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.381C>T
  hgvsp: ENST00000587605.1:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.381C>T
  hgvsp: ENST00000339998.6:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.381C>T
  hgvsp: ENST00000590208.1:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000464823
  ensembl transcript: ENST00000590215
  gene symbol: MBD1
  hgvsc: ENST00000590215.1:c.*238C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.381C>T
  hgvsp: ENST00000347968.3:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.459C>T
  hgvsp: ENST00000424334.2:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.381C>T
  hgvsp: ENST00000382948.5:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.381C>T
  hgvsp: ENST00000398495.2:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.492C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.381C>T
  hgvsp: ENST00000585672.1:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe127Phe
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

18-47803229-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803229
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803229
    reference: chr 18
allele count: 3
allele frequency: 2.471088267272907e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.365C>T
  hgvsp: ENSP00000269468.5:p.Thr122Ile
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.365C>T
  hgvsp: ENSP00000465923.1:p.Thr122Ile
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.443C>T
  hgvsp: ENSP00000408846.2:p.Thr148Ile
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.365C>T
  hgvsp: ENSP00000468042.1:p.Thr122Ile
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.365C>T
  hgvsp: ENSP00000405268.2:p.Thr122Ile
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.365C>T
  hgvsp: ENSP00000269469.5:p.Thr122Ile
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.365C>T
  hgvsp: ENSP00000269471.5:p.Thr122Ile
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.365C>T
  hgvsp: ENSP00000409561.1:p.Thr122Ile
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000464823
  ensembl transcript: ENST00000590215
  gene symbol: MBD1
  hgvsc: ENST00000590215.1:c.*222C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.365C>T
  hgvsp: ENSP00000468430.1:p.Thr122Ile
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.365C>T
  hgvsp: ENSP00000381508.2:p.Thr122Ile
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.365C>T
  hgvsp: ENSP00000467017.1:p.Thr122Ile
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.365C>T
  hgvsp: ENSP00000381506.1:p.Thr122Ile
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.365C>T
  hgvsp: ENSP00000342531.2:p.Thr122Ile
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.365C>T
  hgvsp: ENSP00000285102.5:p.Thr122Ile
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.365C>T
  hgvsp: ENSP00000466092.1:p.Thr122Ile
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.365C>T
  hgvsp: ENSP00000339546.5:p.Thr122Ile
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.365C>T
  hgvsp: ENSP00000468785.1:p.Thr122Ile
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.365C>T
  hgvsp: ENSP00000381502.1:p.Thr122Ile
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr122Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

18-47803232-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803232
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803232
    reference: chr 18
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.136A>C
  hgvsp: ENSP00000467606.1:p.Asp46Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.362A>C
  hgvsp: ENSP00000342531.2:p.Asp121Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.362A>C
  hgvsp: ENSP00000405268.2:p.Asp121Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.362A>C
  hgvsp: ENSP00000465923.1:p.Asp121Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.362A>C
  hgvsp: ENSP00000466092.1:p.Asp121Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.440A>C
  hgvsp: ENSP00000408846.2:p.Asp147Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.362A>C
  hgvsp: ENSP00000467763.1:p.Asp121Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.362A>C
  hgvsp: ENSP00000381506.1:p.Asp121Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.362A>C
  hgvsp: ENSP00000269468.5:p.Asp121Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.362A>C
  hgvsp: ENSP00000468430.1:p.Asp121Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.362A>C
  hgvsp: ENSP00000285102.5:p.Asp121Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.362A>C
  hgvsp: ENSP00000381502.1:p.Asp121Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.362A>C
  hgvsp: ENSP00000468042.1:p.Asp121Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.546A>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.362A>C
  hgvsp: ENSP00000381508.2:p.Asp121Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.362A>C
  hgvsp: ENSP00000269469.5:p.Asp121Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.362A>C
  hgvsp: ENSP00000269471.5:p.Asp121Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.362A>C
  hgvsp: ENSP00000468785.1:p.Asp121Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.362A>C
  hgvsp: ENSP00000372407.5:p.Asp121Ala
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp121Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

18-47803237-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803237
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803237
    reference: chr 18
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.357C>T
  hgvsp: ENST00000398495.2:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.468C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.357C>T
  hgvsp: ENST00000590208.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.357C>T
  hgvsp: ENST00000382948.5:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.131C>T
  hgvsp: ENST00000592060.1:c.131C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.357C>T
  hgvsp: ENST00000591416.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.357C>T
  hgvsp: ENST00000398493.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.357C>T
  hgvsp: ENST00000585672.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.357C>T
  hgvsp: ENST00000347968.3:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.357C>T
  hgvsp: ENST00000436910.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.435C>T
  hgvsp: ENST00000424334.2:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.357C>T
  hgvsp: ENST00000398488.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.357C>T
  hgvsp: ENST00000587605.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.357C>T
  hgvsp: ENST00000339998.6:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.357C>T
  hgvsp: ENST00000353909.3:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000464823
  ensembl transcript: ENST00000590215
  gene symbol: MBD1
  hgvsc: ENST00000590215.1:c.*214C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.357C>T
  hgvsp: ENST00000269471.5:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.357C>T
  hgvsp: ENST00000588937.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.541C>T
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp119Asp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

18-47803244-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803244
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803244
    reference: chr 18
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.350A>T
  hgvsp: ENSP00000269471.5:p.Lys117Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.350A>T
  hgvsp: ENSP00000468042.1:p.Lys117Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.428A>T
  hgvsp: ENSP00000408846.2:p.Lys143Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.350A>T
  hgvsp: ENSP00000467763.1:p.Lys117Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.350A>T
  hgvsp: ENSP00000466092.1:p.Lys117Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.350A>T
  hgvsp: ENSP00000381508.2:p.Lys117Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.350A>T
  hgvsp: ENSP00000405268.2:p.Lys117Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.350A>T
  hgvsp: ENSP00000381506.1:p.Lys117Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.350A>T
  hgvsp: ENSP00000269468.5:p.Lys117Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.350A>T
  hgvsp: ENSP00000285102.5:p.Lys117Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.350A>T
  hgvsp: ENSP00000381502.1:p.Lys117Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.350A>T
  hgvsp: ENSP00000467017.1:p.Lys117Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.350A>T
  hgvsp: ENSP00000468430.1:p.Lys117Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.534A>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.350A>T
  hgvsp: ENSP00000468785.1:p.Lys117Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.350A>T
  hgvsp: ENSP00000465923.1:p.Lys117Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.461A>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.350A>T
  hgvsp: ENSP00000372407.5:p.Lys117Met
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000464823
  ensembl transcript: ENST00000590215
  gene symbol: MBD1
  hgvsc: ENST00000590215.1:c.*207A>T
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys117Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

18-47803258-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803258
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803258
    reference: chr 18
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.336G>A
  hgvsp: ENST00000269471.5:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.336G>A
  hgvsp: ENST00000398488.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.336G>A
  hgvsp: ENST00000591416.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.336G>A
  hgvsp: ENST00000588937.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.336G>A
  hgvsp: ENST00000585595.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.414G>A
  hgvsp: ENST00000424334.2:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.336G>A
  hgvsp: ENST00000587605.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.336G>A
  hgvsp: ENST00000398495.2:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.336G>A
  hgvsp: ENST00000347968.3:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.336G>A
  hgvsp: ENST00000585672.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.336G>A
  hgvsp: ENST00000590208.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.336G>A
  hgvsp: ENST00000339998.6:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.336G>A
  hgvsp: ENST00000353909.3:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.336G>A
  hgvsp: ENST00000398493.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.336G>A
  hgvsp: ENST00000436910.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.336G>A
  hgvsp: ENST00000269468.5:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.336G>A
  hgvsp: ENST00000591535.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.447G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.520G>A
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro112Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP

18-47803259-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803259
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803259
    reference: chr 18
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.335C>T
  hgvsp: ENSP00000372407.5:p.Pro112Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.335C>T
  hgvsp: ENSP00000381508.2:p.Pro112Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.335C>T
  hgvsp: ENSP00000339546.5:p.Pro112Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.335C>T
  hgvsp: ENSP00000468042.1:p.Pro112Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.335C>T
  hgvsp: ENSP00000467763.1:p.Pro112Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.335C>T
  hgvsp: ENSP00000468430.1:p.Pro112Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.413C>T
  hgvsp: ENSP00000408846.2:p.Pro138Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.335C>T
  hgvsp: ENSP00000285102.5:p.Pro112Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.335C>T
  hgvsp: ENSP00000468785.1:p.Pro112Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.335C>T
  hgvsp: ENSP00000465923.1:p.Pro112Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.335C>T
  hgvsp: ENSP00000466092.1:p.Pro112Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000464823
  ensembl transcript: ENST00000590215
  gene symbol: MBD1
  hgvsc: ENST00000590215.1:c.*192C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.335C>T
  hgvsp: ENSP00000269469.5:p.Pro112Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.335C>T
  hgvsp: ENSP00000381506.1:p.Pro112Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.335C>T
  hgvsp: ENSP00000269471.5:p.Pro112Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.519C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.335C>T
  hgvsp: ENSP00000467017.1:p.Pro112Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.335C>T
  hgvsp: ENSP00000405268.2:p.Pro112Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.109C>T
  hgvsp: ENSP00000467606.1:p.Pro37Leu
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro112Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

18-47803265-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803265
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803265
    reference: chr 18
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.329A>C
  hgvsp: ENSP00000269468.5:p.Glu110Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.329A>C
  hgvsp: ENSP00000468042.1:p.Glu110Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.329A>C
  hgvsp: ENSP00000467017.1:p.Glu110Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.329A>C
  hgvsp: ENSP00000339546.5:p.Glu110Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.329A>C
  hgvsp: ENSP00000372407.5:p.Glu110Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.329A>C
  hgvsp: ENSP00000381502.1:p.Glu110Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.329A>C
  hgvsp: ENSP00000269471.5:p.Glu110Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.329A>C
  hgvsp: ENSP00000381506.1:p.Glu110Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000464823
  ensembl transcript: ENST00000590215
  gene symbol: MBD1
  hgvsc: ENST00000590215.1:c.*186A>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.329A>C
  hgvsp: ENSP00000468430.1:p.Glu110Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.329A>C
  hgvsp: ENSP00000465923.1:p.Glu110Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.329A>C
  hgvsp: ENSP00000285102.5:p.Glu110Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.329A>C
  hgvsp: ENSP00000381508.2:p.Glu110Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.407A>C
  hgvsp: ENSP00000408846.2:p.Glu136Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.329A>C
  hgvsp: ENSP00000466092.1:p.Glu110Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.329A>C
  hgvsp: ENSP00000269469.5:p.Glu110Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.103A>C
  hgvsp: ENSP00000467606.1:p.Glu35Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.329A>C
  hgvsp: ENSP00000467763.1:p.Glu110Ala
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.329A>C
  hgvsp: ENSP00000405268.2:p.Glu110Ala
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu110Ala
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

18-47803278-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803278
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803278
    reference: chr 18
allele count: 7
allele frequency: 5.765777638666952e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000464823
  ensembl transcript: ENST00000590215
  gene symbol: MBD1
  hgvsc: ENST00000590215.1:c.*173G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.316G>A
  hgvsp: ENSP00000339546.5:p.Glu106Lys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.316G>A
  hgvsp: ENSP00000269471.5:p.Glu106Lys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.90G>A
  hgvsp: ENSP00000467606.1:p.Glu31Lys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.316G>A
  hgvsp: ENSP00000381506.1:p.Glu106Lys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.316G>A
  hgvsp: ENSP00000468430.1:p.Glu106Lys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.394G>A
  hgvsp: ENSP00000408846.2:p.Glu132Lys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.316G>A
  hgvsp: ENSP00000468042.1:p.Glu106Lys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.316G>A
  hgvsp: ENSP00000466092.1:p.Glu106Lys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.316G>A
  hgvsp: ENSP00000269469.5:p.Glu106Lys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.316G>A
  hgvsp: ENSP00000285102.5:p.Glu106Lys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.316G>A
  hgvsp: ENSP00000381502.1:p.Glu106Lys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.316G>A
  hgvsp: ENSP00000468785.1:p.Glu106Lys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.316G>A
  hgvsp: ENSP00000467017.1:p.Glu106Lys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.316G>A
  hgvsp: ENSP00000405268.2:p.Glu106Lys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.316G>A
  hgvsp: ENSP00000465923.1:p.Glu106Lys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.316G>A
  hgvsp: ENSP00000409561.1:p.Glu106Lys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.316G>A
  hgvsp: ENSP00000269468.5:p.Glu106Lys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.316G>A
  hgvsp: ENSP00000467763.1:p.Glu106Lys
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu106Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

18-47803289-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803289
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803289
    reference: chr 18
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.305C>T
  hgvsp: ENSP00000467017.1:p.Pro102Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.305C>T
  hgvsp: ENSP00000467763.1:p.Pro102Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.305C>T
  hgvsp: ENSP00000381506.1:p.Pro102Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.305C>T
  hgvsp: ENSP00000342531.2:p.Pro102Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.79C>T
  hgvsp: ENSP00000467606.1:p.Pro27Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.305C>T
  hgvsp: ENSP00000468042.1:p.Pro102Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.416C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.305C>T
  hgvsp: ENSP00000381508.2:p.Pro102Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000464823
  ensembl transcript: ENST00000590215
  gene symbol: MBD1
  hgvsc: ENST00000590215.1:c.*162C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.305C>T
  hgvsp: ENSP00000466092.1:p.Pro102Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.305C>T
  hgvsp: ENSP00000381502.1:p.Pro102Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.305C>T
  hgvsp: ENSP00000468430.1:p.Pro102Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.305C>T
  hgvsp: ENSP00000409561.1:p.Pro102Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.383C>T
  hgvsp: ENSP00000408846.2:p.Pro128Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.305C>T
  hgvsp: ENSP00000339546.5:p.Pro102Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.489C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.305C>T
  hgvsp: ENSP00000372407.5:p.Pro102Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.305C>T
  hgvsp: ENSP00000269471.5:p.Pro102Leu
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.305C>T
  hgvsp: ENSP00000468785.1:p.Pro102Leu
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro102Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

18-47803301-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803301
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803301
    reference: chr 18
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.293G>A
  hgvsp: ENSP00000467763.1:p.Arg98His
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.293G>A
  hgvsp: ENSP00000372407.5:p.Arg98His
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.293G>A
  hgvsp: ENSP00000405268.2:p.Arg98His
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.293G>A
  hgvsp: ENSP00000467017.1:p.Arg98His
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.293G>A
  hgvsp: ENSP00000468785.1:p.Arg98His
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.293G>A
  hgvsp: ENSP00000381508.2:p.Arg98His
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.293G>A
  hgvsp: ENSP00000269471.5:p.Arg98His
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.293G>A
  hgvsp: ENSP00000466092.1:p.Arg98His
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.293G>A
  hgvsp: ENSP00000381502.1:p.Arg98His
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.477G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.67G>A
  hgvsp: ENSP00000467606.1:p.Arg23His
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.293G>A
  hgvsp: ENSP00000339546.5:p.Arg98His
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.371G>A
  hgvsp: ENSP00000408846.2:p.Arg124His
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.293G>A
  hgvsp: ENSP00000465923.1:p.Arg98His
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.293G>A
  hgvsp: ENSP00000285102.5:p.Arg98His
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.293G>A
  hgvsp: ENSP00000468042.1:p.Arg98His
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000464823
  ensembl transcript: ENST00000590215
  gene symbol: MBD1
  hgvsc: ENST00000590215.1:c.*150G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.293G>A
  hgvsp: ENSP00000342531.2:p.Arg98His
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.293G>A
  hgvsp: ENSP00000468430.1:p.Arg98His
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg98His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

18-47803302-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803302
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803302
    reference: chr 18
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.292C>T
  hgvsp: ENSP00000405268.2:p.Arg98Cys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.292C>T
  hgvsp: ENSP00000467763.1:p.Arg98Cys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.292C>T
  hgvsp: ENSP00000285102.5:p.Arg98Cys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.66C>T
  hgvsp: ENSP00000467606.1:p.Arg23Cys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269469
  ensembl transcript: ENST00000353909
  gene symbol: MBD1
  hgvsc: ENST00000353909.3:c.292C>T
  hgvsp: ENSP00000269469.5:p.Arg98Cys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.292C>T
  hgvsp: ENSP00000372407.5:p.Arg98Cys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.292C>T
  hgvsp: ENSP00000468042.1:p.Arg98Cys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.292C>T
  hgvsp: ENSP00000468785.1:p.Arg98Cys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.292C>T
  hgvsp: ENSP00000468430.1:p.Arg98Cys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.292C>T
  hgvsp: ENSP00000269468.5:p.Arg98Cys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.292C>T
  hgvsp: ENSP00000467017.1:p.Arg98Cys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.292C>T
  hgvsp: ENSP00000381508.2:p.Arg98Cys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.370C>T
  hgvsp: ENSP00000408846.2:p.Arg124Cys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.292C>T
  hgvsp: ENSP00000465923.1:p.Arg98Cys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.403C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.292C>T
  hgvsp: ENSP00000466092.1:p.Arg98Cys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.292C>T
  hgvsp: ENSP00000339546.5:p.Arg98Cys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.292C>T
  hgvsp: ENSP00000381506.1:p.Arg98Cys
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.292C>T
  hgvsp: ENSP00000342531.2:p.Arg98Cys
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg98Cys
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

18-47803307-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803307
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803307
    reference: chr 18
allele count: 5
allele frequency: 4.118276912939626e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.287G>A
  hgvsp: ENSP00000468042.1:p.Arg96Gln
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.365G>A
  hgvsp: ENSP00000408846.2:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.287G>A
  hgvsp: ENSP00000409561.1:p.Arg96Gln
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.287G>A
  hgvsp: ENSP00000339546.5:p.Arg96Gln
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.287G>A
  hgvsp: ENSP00000468785.1:p.Arg96Gln
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.287G>A
  hgvsp: ENSP00000381508.2:p.Arg96Gln
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.287G>A
  hgvsp: ENSP00000269471.5:p.Arg96Gln
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.287G>A
  hgvsp: ENSP00000465923.1:p.Arg96Gln
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.287G>A
  hgvsp: ENSP00000342531.2:p.Arg96Gln
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.287G>A
  hgvsp: ENSP00000466092.1:p.Arg96Gln
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.287G>A
  hgvsp: ENSP00000468430.1:p.Arg96Gln
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.287G>A
  hgvsp: ENSP00000381506.1:p.Arg96Gln
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.287G>A
  hgvsp: ENSP00000285102.5:p.Arg96Gln
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.398G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.287G>A
  hgvsp: ENSP00000372407.5:p.Arg96Gln
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.287G>A
  hgvsp: ENSP00000467763.1:p.Arg96Gln
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000464823
  ensembl transcript: ENST00000590215
  gene symbol: MBD1
  hgvsc: ENST00000590215.1:c.*144G>A
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.287G>A
  hgvsp: ENSP00000381502.1:p.Arg96Gln
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.287G>A
  hgvsp: ENSP00000467017.1:p.Arg96Gln
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg96Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

18-47803308-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803308
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803308
    reference: chr 18
allele count: 9
allele frequency: 7.412898443291327e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.286C>T
  hgvsp: ENSP00000339546.5:p.Arg96Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.470C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.397C>T
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.286C>T
  hgvsp: ENSP00000405268.2:p.Arg96Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.286C>T
  hgvsp: ENSP00000342531.2:p.Arg96Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.286C>T
  hgvsp: ENSP00000381502.1:p.Arg96Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.286C>T
  hgvsp: ENSP00000381508.2:p.Arg96Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.286C>T
  hgvsp: ENSP00000468785.1:p.Arg96Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.286C>T
  hgvsp: ENSP00000269468.5:p.Arg96Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.286C>T
  hgvsp: ENSP00000467017.1:p.Arg96Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.60C>T
  hgvsp: ENSP00000467606.1:p.Arg21Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.364C>T
  hgvsp: ENSP00000408846.2:p.Arg122Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.286C>T
  hgvsp: ENSP00000468042.1:p.Arg96Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.286C>T
  hgvsp: ENSP00000468430.1:p.Arg96Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.286C>T
  hgvsp: ENSP00000465923.1:p.Arg96Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.286C>T
  hgvsp: ENSP00000467763.1:p.Arg96Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.286C>T
  hgvsp: ENSP00000466092.1:p.Arg96Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.286C>T
  hgvsp: ENSP00000372407.5:p.Arg96Trp
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.286C>T
  hgvsp: ENSP00000285102.5:p.Arg96Trp
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg96Trp
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS

18-47803313-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803313
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803313
    reference: chr 18
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.281A>C
  hgvsp: ENSP00000468785.1:p.Lys94Thr
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.281A>C
  hgvsp: ENSP00000466092.1:p.Lys94Thr
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.281A>C
  hgvsp: ENSP00000381508.2:p.Lys94Thr
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.281A>C
  hgvsp: ENSP00000468042.1:p.Lys94Thr
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.281A>C
  hgvsp: ENSP00000381506.1:p.Lys94Thr
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.281A>C
  hgvsp: ENSP00000372407.5:p.Lys94Thr
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.359A>C
  hgvsp: ENSP00000408846.2:p.Lys120Thr
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.281A>C
  hgvsp: ENSP00000409561.1:p.Lys94Thr
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000589867
  gene symbol: MBD1
  hgvsc: ENST00000589867.1:n.392A>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.55A>C
  hgvsp: ENSP00000467606.1:p.Lys19Thr
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.281A>C
  hgvsp: ENSP00000405268.2:p.Lys94Thr
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.281A>C
  hgvsp: ENSP00000342531.2:p.Lys94Thr
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.281A>C
  hgvsp: ENSP00000269468.5:p.Lys94Thr
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.281A>C
  hgvsp: ENSP00000468430.1:p.Lys94Thr
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.281A>C
  hgvsp: ENSP00000269471.5:p.Lys94Thr
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.281A>C
  hgvsp: ENSP00000467763.1:p.Lys94Thr
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.281A>C
  hgvsp: ENSP00000339546.5:p.Lys94Thr
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000464823
  ensembl transcript: ENST00000590215
  gene symbol: MBD1
  hgvsc: ENST00000590215.1:c.*138A>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.281A>C
  hgvsp: ENSP00000381502.1:p.Lys94Thr
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys94Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

18-47803321-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803321
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803321
    reference: chr 18
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.273G>C
  hgvsp: ENSP00000381508.2:p.Arg91Ser
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.273G>C
  hgvsp: ENSP00000342531.2:p.Arg91Ser
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.273G>C
  hgvsp: ENSP00000269471.5:p.Arg91Ser
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.273G>C
  hgvsp: ENSP00000467763.1:p.Arg91Ser
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.273G>C
  hgvsp: ENSP00000381506.1:p.Arg91Ser
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.273G>C
  hgvsp: ENSP00000372407.5:p.Arg91Ser
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.273G>C
  hgvsp: ENSP00000468430.1:p.Arg91Ser
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.273G>C
  hgvsp: ENSP00000465923.1:p.Arg91Ser
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467017
  ensembl transcript: ENST00000591416
  gene symbol: MBD1
  hgvsc: ENST00000591416.1:c.273G>C
  hgvsp: ENSP00000467017.1:p.Arg91Ser
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.273G>C
  hgvsp: ENSP00000466092.1:p.Arg91Ser
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.273G>C
  hgvsp: ENSP00000409561.1:p.Arg91Ser
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.457G>C
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.351G>C
  hgvsp: ENSP00000408846.2:p.Arg117Ser
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000339546
  ensembl transcript: ENST00000339998
  gene symbol: MBD1
  hgvsc: ENST00000339998.6:c.273G>C
  hgvsp: ENSP00000339546.5:p.Arg91Ser
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.273G>C
  hgvsp: ENSP00000381502.1:p.Arg91Ser
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.273G>C
  hgvsp: ENSP00000405268.2:p.Arg91Ser
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000285102
  ensembl transcript: ENST00000347968
  gene symbol: MBD1
  hgvsc: ENST00000347968.3:c.273G>C
  hgvsp: ENSP00000285102.5:p.Arg91Ser
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.273G>C
  hgvsp: ENSP00000468042.1:p.Arg91Ser
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.273G>C
  hgvsp: ENSP00000269468.5:p.Arg91Ser
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg91Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

18-47803336-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47803336
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47803336
    reference: chr 18
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000342531
  ensembl transcript: ENST00000349085
  gene symbol: MBD1
  hgvsc: ENST00000349085.2:c.258A>G
  hgvsp: ENST00000349085.2:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000465923
  ensembl transcript: ENST00000591535
  gene symbol: MBD1
  hgvsc: ENST00000591535.1:c.258A>G
  hgvsp: ENST00000591535.1:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000466092
  ensembl transcript: ENST00000585672
  gene symbol: MBD1
  hgvsc: ENST00000585672.1:c.258A>G
  hgvsp: ENST00000585672.1:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000405268
  ensembl transcript: ENST00000457839
  gene symbol: MBD1
  hgvsc: ENST00000457839.2:c.258A>G
  hgvsp: ENST00000457839.2:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381508
  ensembl transcript: ENST00000398495
  gene symbol: MBD1
  hgvsc: ENST00000398495.2:c.258A>G
  hgvsp: ENST00000398495.2:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468042
  ensembl transcript: ENST00000587605
  gene symbol: MBD1
  hgvsc: ENST00000587605.1:c.258A>G
  hgvsp: ENST00000587605.1:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468430
  ensembl transcript: ENST00000585595
  gene symbol: MBD1
  hgvsc: ENST00000585595.1:c.258A>G
  hgvsp: ENST00000585595.1:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000468785
  ensembl transcript: ENST00000590208
  gene symbol: MBD1
  hgvsc: ENST00000590208.1:c.258A>G
  hgvsp: ENST00000590208.1:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467763
  ensembl transcript: ENST00000588937
  gene symbol: MBD1
  hgvsc: ENST00000588937.1:c.258A>G
  hgvsp: ENST00000588937.1:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381502
  ensembl transcript: ENST00000398488
  gene symbol: MBD1
  hgvsc: ENST00000398488.1:c.258A>G
  hgvsp: ENST00000398488.1:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000409561
  ensembl transcript: ENST00000436910
  gene symbol: MBD1
  hgvsc: ENST00000436910.1:c.258A>G
  hgvsp: ENST00000436910.1:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269471
  ensembl transcript: ENST00000269471
  gene symbol: MBD1
  hgvsc: ENST00000269471.5:c.258A>G
  hgvsp: ENST00000269471.5:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000381506
  ensembl transcript: ENST00000398493
  gene symbol: MBD1
  hgvsc: ENST00000398493.1:c.258A>G
  hgvsp: ENST00000398493.1:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000408846
  ensembl transcript: ENST00000424334
  gene symbol: MBD1
  hgvsc: ENST00000424334.2:c.336A>G
  hgvsp: ENST00000424334.2:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000467606
  ensembl transcript: ENST00000592060
  gene symbol: MBD1
  hgvsc: ENST00000592060.1:c.32A>G
  hgvsp: ENST00000592060.1:c.32A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000464823
  ensembl transcript: ENST00000590215
  gene symbol: MBD1
  hgvsc: ENST00000590215.1:c.*115A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000269468
  ensembl transcript: ENST00000269468
  gene symbol: MBD1
  hgvsc: ENST00000269468.5:c.258A>G
  hgvsp: ENST00000269468.5:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141644
  ensembl transcript: ENST00000586118
  gene symbol: MBD1
  hgvsc: ENST00000586118.1:n.442A>G
  variant of: http://identifiers.org/hgnc/6916
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141644
  ensembl protein: ENSP00000372407
  ensembl transcript: ENST00000382948
  gene symbol: MBD1
  hgvsc: ENST00000382948.5:c.258A>G
  hgvsp: ENST00000382948.5:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6916
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
hgvs: p.Arg86Arg
num of homozygotes: 0
reference allele: T

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269469
ensembl transcript: ENST00000353909
gene symbol: MBD1
hgvsc: ENST00000353909.3:c.475+36A>G
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000342531
ensembl transcript: ENST00000349085
gene symbol: MBD1
hgvsc: ENST00000349085.2:c.475+36A>G
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381506
ensembl transcript: ENST00000398493
gene symbol: MBD1
hgvsc: ENST00000398493.1:c.475+36A>G
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 4366
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1623
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 550
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23878
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11484
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1175
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 513
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 389
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5711
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3338
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 380
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4204
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2312
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1510
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 84
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1361
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2779
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4797
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9128
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 669
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1555
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28124
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16226
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.899029895070283e-5
allele num: 10102
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.152e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

FS
type: SiteQuality
SIO_000300: 2.341e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.83e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

DP
type: SiteQuality
SIO_000300: 1.973529e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000285102
ensembl transcript: ENST00000347968
gene symbol: MBD1
hgvsc: ENST00000347968.3:c.475+31delG
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467763
ensembl transcript: ENST00000588937
gene symbol: MBD1
hgvsc: ENST00000588937.1:c.475+31delG
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000339546
ensembl transcript: ENST00000339998
gene symbol: MBD1
hgvsc: ENST00000339998.6:c.475+31delG
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 1184
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 753
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 389
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4781
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1567
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 551
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11998
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 466
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 380
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2955
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 513
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25679
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4204
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3435
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2173
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30717
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1594
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2232
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4953
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9133
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1036
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2102
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5676
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.91583452211127e-5
allele num: 11216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.39e-1

MQ
type: SiteQuality
SIO_000300: 5.849e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.426e1

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.834e0

FS
type: SiteQuality
SIO_000300: 2.187e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.72e0

DP
type: SiteQuality
SIO_000300: 1.994377e6

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000468785
ensembl transcript: ENST00000590208
gene symbol: MBD1
hgvsc: ENST00000590208.1:c.475+31G>A
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000339546
ensembl transcript: ENST00000339998
gene symbol: MBD1
hgvsc: ENST00000339998.6:c.475+31G>A
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381506
ensembl transcript: ENST00000398493
gene symbol: MBD1
hgvsc: ENST00000398493.1:c.475+31G>A
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 466
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1537
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4204
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 551
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26072
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2635
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 389
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4506
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12174
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1189
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 380
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3487
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 513
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31086
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1952
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9135
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1153
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1491
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1603
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4985
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2112
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528818223513224e-5
allele num: 65410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.757e0

QD
type: SiteQuality
SIO_000300: 8.75e0

VQSLOD
type: SiteQuality
SIO_000300: -3.039e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.096e0

DP
type: SiteQuality
SIO_000300: 2.00065e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381502
ensembl transcript: ENST00000398488
gene symbol: MBD1
hgvsc: ENST00000398488.1:c.475+29G>A
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000405268
ensembl transcript: ENST00000457839
gene symbol: MBD1
hgvsc: ENST00000457839.2:c.475+29G>A
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269469
ensembl transcript: ENST00000353909
gene symbol: MBD1
hgvsc: ENST00000353909.3:c.475+29G>A
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 2116
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12637
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3888
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 389
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4204
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1215
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3683
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1459
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 760
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 380
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 512
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 554
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 26605
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1988
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1871
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5046
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9140
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32002
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1638
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16234
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65434
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.875567845151097e-5
allele num: 10126
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.929e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.621e0

QD
type: SiteQuality
SIO_000300: 1.89e1

DP
type: SiteQuality
SIO_000300: 2.015542e6

MQ
type: SiteQuality
SIO_000300: 5.878e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381502
ensembl transcript: ENST00000398488
gene symbol: MBD1
hgvsc: ENST00000398488.1:c.475+28C>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000342531
ensembl transcript: ENST00000349085
gene symbol: MBD1
hgvsc: ENST00000349085.2:c.475+28C>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000285102
ensembl transcript: ENST00000347968
gene symbol: MBD1
hgvsc: ENST00000347968.3:c.475+28C>T
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 403
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12924
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 512
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1748
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 763
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3770
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3435
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 389
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27082
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1417
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 559
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4204
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1225
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 380
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32870
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9156
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1913
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1669
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1630
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1412
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5181
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 591
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.151574803149606e-5
allele num: 16256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525506468147425e-5
allele num: 65552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5698
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.177856301531213e-4
allele num: 8490
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.923e1

FS
type: SiteQuality
SIO_000300: 3.962e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.46e-1

DP
type: SiteQuality
SIO_000300: 2.025379e6

MQRankSum
type: SiteQuality
SIO_000300: -2.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 9.58e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000586118
gene symbol: MBD1
hgvsc: ENST00000586118.1:n.746+27T>C
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269469
ensembl transcript: ENST00000353909
gene symbol: MBD1
hgvsc: ENST00000353909.3:c.475+27T>C
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381502
ensembl transcript: ENST00000398488
gene symbol: MBD1
hgvsc: ENST00000398488.1:c.475+27T>C
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 27580
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 380
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4205
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3136
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13084
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 512
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 465
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1493
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1381
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1219
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3721
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 762
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1599
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5314
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1450
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33673
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9169
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1706
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.145526057030482e-5
allele num: 16272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65662
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.37e1

DP
type: SiteQuality
SIO_000300: 2.03005e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.45e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.73e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000586118
gene symbol: MBD1
hgvsc: ENST00000586118.1:n.746+23G>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000466092
ensembl transcript: ENST00000585672
gene symbol: MBD1
hgvsc: ENST00000585672.1:c.475+23G>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467017
ensembl transcript: ENST00000591416
gene symbol: MBD1
hgvsc: ENST00000591416.1:c.475+23G>T
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 28483
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 465
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13750
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3895
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1191
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 906
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4204
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 767
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 512
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2144
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1246
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 402
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35152
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1531
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5487
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1770
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9180
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 520
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65866
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.137981831573779e-5
allele num: 16292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5780
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

QD
type: SiteQuality
SIO_000300: 2.148e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.045e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.051558e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269469
ensembl transcript: ENST00000353909
gene symbol: MBD1
hgvsc: ENST00000353909.3:c.475+20T>C
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000409561
ensembl transcript: ENST00000436910
gene symbol: MBD1
hgvsc: ENST00000436910.1:c.475+20T>C
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000339546
ensembl transcript: ENST00000339998
gene symbol: MBD1
hgvsc: ENST00000339998.6:c.475+20T>C
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 1072
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 565
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1254
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 465
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1628
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 639
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 513
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 28858
bin: 2.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 769
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14166
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4204
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4001
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 528
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1715
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5656
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9198
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1249
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1820
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35931
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.030211205721039e-5
allele num: 66002
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5832
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.239e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.063461e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000405268
ensembl transcript: ENST00000457839
gene symbol: MBD1
hgvsc: ENST00000457839.2:c.475+10C>G
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000339546
ensembl transcript: ENST00000339998
gene symbol: MBD1
hgvsc: ENST00000339998.6:c.475+10C>G
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000342531
ensembl transcript: ENST00000349085
gene symbol: MBD1
hgvsc: ENST00000349085.2:c.475+10C>G
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 563
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 700
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1282
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 465
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 232
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4204
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 360
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 699
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4243
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 29530
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 514
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14937
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 780
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1908
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37298
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9223
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1309
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5878
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1788
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 674
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5994
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.098304671301378e-5
allele num: 16398
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.215e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.014e0

VQSLOD
type: SiteQuality
SIO_000300: -8.475e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 2.087237e6

FS
type: SiteQuality
SIO_000300: 6.858e0

QD
type: SiteQuality
SIO_000300: 1.306e1

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.644e0

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467763
ensembl transcript: ENST00000588937
gene symbol: MBD1
hgvsc: ENST00000588937.1:c.475+3G>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000466092
ensembl transcript: ENST00000585672
gene symbol: MBD1
hgvsc: ENST00000585672.1:c.475+3G>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000586118
gene symbol: MBD1
hgvsc: ENST00000586118.1:n.746+3G>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381502
ensembl transcript: ENST00000398488
gene symbol: MBD1
hgvsc: ENST00000398488.1:c.475+3G>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269471
ensembl transcript: ENST00000269471
gene symbol: MBD1
hgvsc: ENST00000269471.5:c.475+3G>T
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 466
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 536
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 567
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29516
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 514
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15335
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 786
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 419
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1301
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4204
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4348
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 692
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1828
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5957
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 613
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 9242
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37644
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1337
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1955
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505026789476853e-5
allele num: 66444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6076
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.85e-1

FS
type: SiteQuality
SIO_000300: 8.220000000000001e0

DP
type: SiteQuality
SIO_000300: 2.096443e6

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 1.133e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.739e0

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467017
ensembl transcript: ENST00000591416
gene symbol: MBD1
hgvsc: ENST00000591416.1:c.473G>C
hgvsp: ENSP00000467017.1:p.Arg158Pro
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000466092
ensembl transcript: ENST00000585672
gene symbol: MBD1
hgvsc: ENST00000585672.1:c.473G>C
hgvsp: ENSP00000466092.1:p.Arg158Pro
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000372407
ensembl transcript: ENST00000382948
gene symbol: MBD1
hgvsc: ENST00000382948.5:c.473G>C
hgvsp: ENSP00000372407.5:p.Arg158Pro
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000342531
ensembl transcript: ENST00000349085
gene symbol: MBD1
hgvsc: ENST00000349085.2:c.473G>C
hgvsp: ENSP00000342531.2:p.Arg158Pro
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381506
ensembl transcript: ENST00000398493
gene symbol: MBD1
hgvsc: ENST00000398493.1:c.473G>C
hgvsp: ENSP00000381506.1:p.Arg158Pro
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000339546
ensembl transcript: ENST00000339998
gene symbol: MBD1
hgvsc: ENST00000339998.6:c.473G>C
hgvsp: ENSP00000339546.5:p.Arg158Pro
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000586118
gene symbol: MBD1
hgvsc: ENST00000586118.1:n.744G>C
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 388
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 412
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 568
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4204
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 15522
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 787
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29527
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 284
bin: 1.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 514
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1314
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4447
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 6014
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9251
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1965
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37838
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503171692270691e-5
allele num: 66526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6178
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.12e-1

DP
type: SiteQuality
SIO_000300: 2.102247e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.703e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.72e-1

Annotation
canonical: false
consequence: stop_gained
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000372407
ensembl transcript: ENST00000382948
gene symbol: MBD1
hgvsc: ENST00000382948.5:c.472C>T
hgvsp: ENSP00000372407.5:p.Arg158Ter
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: stop_gained
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269469
ensembl transcript: ENST00000353909
gene symbol: MBD1
hgvsc: ENST00000353909.3:c.472C>T
hgvsp: ENSP00000269469.5:p.Arg158Ter
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: stop_gained
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467017
ensembl transcript: ENST00000591416
gene symbol: MBD1
hgvsc: ENST00000591416.1:c.472C>T
hgvsp: ENSP00000467017.1:p.Arg158Ter
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: stop_gained
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000409561
ensembl transcript: ENST00000436910
gene symbol: MBD1
hgvsc: ENST00000436910.1:c.472C>T
hgvsp: ENSP00000409561.1:p.Arg158Ter
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: stop_gained
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000339546
ensembl transcript: ENST00000339998
gene symbol: MBD1
hgvsc: ENST00000339998.6:c.472C>T
hgvsp: ENSP00000339546.5:p.Arg158Ter
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 388
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29521
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4204
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 514
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 384
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4454
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 568
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 794
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1316
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 324
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15572
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1972
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37873
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 101
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6041
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9255
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1861
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6194
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.079e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.996e0

VQSLOD
type: SiteQuality
SIO_000300: -1.364e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.46e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

DP
type: SiteQuality
SIO_000300: 2.103533e6

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000342531
ensembl transcript: ENST00000349085
gene symbol: MBD1
hgvsc: ENST00000349085.2:c.459G>A
hgvsp: ENST00000349085.2:c.459G>A(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000409561
ensembl transcript: ENST00000436910
gene symbol: MBD1
hgvsc: ENST00000436910.1:c.459G>A
hgvsp: ENST00000436910.1:c.459G>A(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000465923
ensembl transcript: ENST00000591535
gene symbol: MBD1
hgvsc: ENST00000591535.1:c.459G>A
hgvsp: ENST00000591535.1:c.459G>A(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467017
ensembl transcript: ENST00000591416
gene symbol: MBD1
hgvsc: ENST00000591416.1:c.459G>A
hgvsp: ENST00000591416.1:c.459G>A(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000466092
ensembl transcript: ENST00000585672
gene symbol: MBD1
hgvsc: ENST00000585672.1:c.459G>A
hgvsp: ENST00000585672.1:c.459G>A(p.%3D)
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 342
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4492
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15853
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 324
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 795
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29641
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1317
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 157
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4204
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 514
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6137
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1391
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38276
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1899
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1985
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9265
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
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: 8650
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.805e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.074e0

QD
type: SiteQuality
SIO_000300: 1.216e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.229e0

VQSLOD
type: SiteQuality
SIO_000300: -6.045e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 2.110692e6

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000342531
ensembl transcript: ENST00000349085
gene symbol: MBD1
hgvsc: ENST00000349085.2:c.457T>C
hgvsp: ENST00000349085.2:c.457T>C(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000586118
gene symbol: MBD1
hgvsc: ENST00000586118.1:n.728T>C
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000468785
ensembl transcript: ENST00000590208
gene symbol: MBD1
hgvsc: ENST00000590208.1:c.457T>C
hgvsp: ENST00000590208.1:c.457T>C(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000285102
ensembl transcript: ENST00000347968
gene symbol: MBD1
hgvsc: ENST00000347968.3:c.457T>C
hgvsp: ENST00000347968.3:c.457T>C(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000466092
ensembl transcript: ENST00000585672
gene symbol: MBD1
hgvsc: ENST00000585672.1:c.457T>C
hgvsp: ENST00000585672.1:c.457T>C(p.%3D)
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 797
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 568
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15868
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1318
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29660
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4204
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4491
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 514
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 717
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9268
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1395
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38309
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1907
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1985
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6145
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.173e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
SIO_000300: 1.007e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e0

DP
type: SiteQuality
SIO_000300: 2.111088e6

FS
type: SiteQuality
SIO_000300: 3.743e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000339546
ensembl transcript: ENST00000339998
gene symbol: MBD1
hgvsc: ENST00000339998.6:c.456G>A
hgvsp: ENST00000339998.6:c.456G>A(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381506
ensembl transcript: ENST00000398493
gene symbol: MBD1
hgvsc: ENST00000398493.1:c.456G>A
hgvsp: ENST00000398493.1:c.456G>A(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269469
ensembl transcript: ENST00000353909
gene symbol: MBD1
hgvsc: ENST00000353909.3:c.456G>A
hgvsp: ENST00000353909.3:c.456G>A(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000589867
gene symbol: MBD1
hgvsc: ENST00000589867.1:n.654G>A
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000465923
ensembl transcript: ENST00000591535
gene symbol: MBD1
hgvsc: ENST00000591535.1:c.456G>A
hgvsp: ENST00000591535.1:c.456G>A(p.%3D)
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 466
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 799
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 96
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29638
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15875
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4204
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4506
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 514
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1320
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1980
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38242
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6147
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 154
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9270
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 718
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1904
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.48e0

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.111526e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.294e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

QD
type: SiteQuality
SIO_000300: 1.059e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000409561
ensembl transcript: ENST00000436910
gene symbol: MBD1
hgvsc: ENST00000436910.1:c.455C>T
hgvsp: ENSP00000409561.1:p.Thr152Met
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000339546
ensembl transcript: ENST00000339998
gene symbol: MBD1
hgvsc: ENST00000339998.6:c.455C>T
hgvsp: ENSP00000339546.5:p.Thr152Met
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381508
ensembl transcript: ENST00000398495
gene symbol: MBD1
hgvsc: ENST00000398495.2:c.455C>T
hgvsp: ENSP00000381508.2:p.Thr152Met
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000405268
ensembl transcript: ENST00000457839
gene symbol: MBD1
hgvsc: ENST00000457839.2:c.455C>T
hgvsp: ENSP00000405268.2:p.Thr152Met
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000372407
ensembl transcript: ENST00000382948
gene symbol: MBD1
hgvsc: ENST00000382948.5:c.455C>T
hgvsp: ENSP00000372407.5:p.Thr152Met
variant of: http://identifiers.org/hgnc/6916

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

GenotypeDepth
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 467
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 514
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4512
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4204
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15904
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29612
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1326
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 86
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 801
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6151
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38292
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1901
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1397
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1979
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 144
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9274
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 718
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.878e1

DP
type: SiteQuality
SIO_000300: 2.112152e6

QD
type: SiteQuality
SIO_000300: 1.086e1

VQSLOD
type: SiteQuality
SIO_000300: -5.947e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000405268
ensembl transcript: ENST00000457839
gene symbol: MBD1
hgvsc: ENST00000457839.2:c.450C>G
hgvsp: ENST00000457839.2:c.450C>G(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269469
ensembl transcript: ENST00000353909
gene symbol: MBD1
hgvsc: ENST00000353909.3:c.450C>G
hgvsp: ENST00000353909.3:c.450C>G(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000372407
ensembl transcript: ENST00000382948
gene symbol: MBD1
hgvsc: ENST00000382948.5:c.450C>G
hgvsp: ENST00000382948.5:c.450C>G(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467606
ensembl transcript: ENST00000592060
gene symbol: MBD1
hgvsc: ENST00000592060.1:c.224C>G
hgvsp: ENST00000592060.1:c.224C>G(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381508
ensembl transcript: ENST00000398495
gene symbol: MBD1
hgvsc: ENST00000398495.2:c.450C>G
hgvsp: ENST00000398495.2:c.450C>G(p.%3D)
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 402
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15947
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 515
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29624
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 388
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 805
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4519
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4205
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 342
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1330
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38366
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9273
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1912
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6168
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1983
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.285e0

VQSLOD
type: SiteQuality
SIO_000300: -2.407e0

DP
type: SiteQuality
SIO_000300: 2.113473e6

QD
type: SiteQuality
SIO_000300: 1.016e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

FS
type: SiteQuality
SIO_000300: 1.254e0

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 5.845e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000285102
ensembl transcript: ENST00000347968
gene symbol: MBD1
hgvsc: ENST00000347968.3:c.449T>C
hgvsp: ENSP00000285102.5:p.Leu150Pro
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467606
ensembl transcript: ENST00000592060
gene symbol: MBD1
hgvsc: ENST00000592060.1:c.223T>C
hgvsp: ENSP00000467606.1:p.Leu75Pro
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000339546
ensembl transcript: ENST00000339998
gene symbol: MBD1
hgvsc: ENST00000339998.6:c.449T>C
hgvsp: ENSP00000339546.5:p.Leu150Pro
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381508
ensembl transcript: ENST00000398495
gene symbol: MBD1
hgvsc: ENST00000398495.2:c.449T>C
hgvsp: ENSP00000381508.2:p.Leu150Pro
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467017
ensembl transcript: ENST00000591416
gene symbol: MBD1
hgvsc: ENST00000591416.1:c.449T>C
hgvsp: ENSP00000467017.1:p.Leu150Pro
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 88
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1328
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29615
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 515
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15962
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 573
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 59
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 803
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4522
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4204
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 359
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38377
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9274
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6174
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1984
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1912
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.113591e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000589867
gene symbol: MBD1
hgvsc: ENST00000589867.1:n.646C>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381502
ensembl transcript: ENST00000398488
gene symbol: MBD1
hgvsc: ENST00000398488.1:c.448C>T
hgvsp: ENSP00000381502.1:p.Leu150Phe
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467017
ensembl transcript: ENST00000591416
gene symbol: MBD1
hgvsc: ENST00000591416.1:c.448C>T
hgvsp: ENSP00000467017.1:p.Leu150Phe
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467606
ensembl transcript: ENST00000592060
gene symbol: MBD1
hgvsc: ENST00000592060.1:c.222C>T
hgvsp: ENSP00000467606.1:p.Leu75Phe
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000372407
ensembl transcript: ENST00000382948
gene symbol: MBD1
hgvsc: ENST00000382948.5:c.448C>T
hgvsp: ENSP00000372407.5:p.Leu150Phe
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 15973
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4524
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29608
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 515
bin: 5.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 572
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 805
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1330
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4204
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 388
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1912
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38387
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1985
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1403
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6177
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9275
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.113923e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.415e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 2.253e0

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.41e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000372407
ensembl transcript: ENST00000382948
gene symbol: MBD1
hgvsc: ENST00000382948.5:c.447G>T
hgvsp: ENST00000382948.5:c.447G>T(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000468785
ensembl transcript: ENST00000590208
gene symbol: MBD1
hgvsc: ENST00000590208.1:c.447G>T
hgvsp: ENST00000590208.1:c.447G>T(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000409561
ensembl transcript: ENST00000436910
gene symbol: MBD1
hgvsc: ENST00000436910.1:c.447G>T
hgvsp: ENST00000436910.1:c.447G>T(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000342531
ensembl transcript: ENST00000349085
gene symbol: MBD1
hgvsc: ENST00000349085.2:c.447G>T
hgvsp: ENST00000349085.2:c.447G>T(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467017
ensembl transcript: ENST00000591416
gene symbol: MBD1
hgvsc: ENST00000591416.1:c.447G>T
hgvsp: ENST00000591416.1:c.447G>T(p.%3D)
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 4534
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4203
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15991
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 516
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 808
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 29570
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 467
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1339
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 342
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 573
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 325
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1911
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6176
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1982
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9278
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 609
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38366
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.279e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.24e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.616e0

DP
type: SiteQuality
SIO_000300: 2.114375e6

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000409561
ensembl transcript: ENST00000436910
gene symbol: MBD1
hgvsc: ENST00000436910.1:c.445C>A
hgvsp: ENST00000436910.1:c.445C>A(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467017
ensembl transcript: ENST00000591416
gene symbol: MBD1
hgvsc: ENST00000591416.1:c.445C>A
hgvsp: ENST00000591416.1:c.445C>A(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269469
ensembl transcript: ENST00000353909
gene symbol: MBD1
hgvsc: ENST00000353909.3:c.445C>A
hgvsp: ENST00000353909.3:c.445C>A(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000466092
ensembl transcript: ENST00000585672
gene symbol: MBD1
hgvsc: ENST00000585672.1:c.445C>A
hgvsp: ENST00000585672.1:c.445C>A(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000339546
ensembl transcript: ENST00000339998
gene symbol: MBD1
hgvsc: ENST00000339998.6:c.445C>A
hgvsp: ENST00000339998.6:c.445C>A(p.%3D)
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 577
bin: 4.75e1
variant carriers: 4

GenotypeDepth
all individuals: 815
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 29516
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 521
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 6.75e1
variant carriers: 3

GenotypeDepth
all individuals: 16011
bin: 2.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 343
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 471
bin: 5.75e1
variant carriers: 5

GenotypeDepth
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 405
bin: 6.25e1
variant carriers: 2

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

GenotypeDepth
all individuals: 328
bin: 7.75e1
variant carriers: 3

GenotypeDepth
all individuals: 353
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4560
bin: 3.25e1
variant carriers: 2

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

GenotypeDepth
all individuals: 1340
bin: 3.75e1
variant carriers: 6

GenotypeDepth
all individuals: 4206
bin: 9.75e1
variant carriers: 5

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

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

GenotypeQuality
all individuals: 1405
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9315
bin: 9.75e1
variant carriers: 38

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38343
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 722
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6177
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 611
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1978
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1910
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817520901490367e-4
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.885170225043277e-4
allele num: 10398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 31
allele frequency: 4.647258117710551e-4
allele num: 66706
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

FS
type: SiteQuality
SIO_000300: 5.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.27e-1

QD
type: SiteQuality
SIO_000300: 1.245e1

DP
type: SiteQuality
SIO_000300: 2.116545e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381508
ensembl transcript: ENST00000398495
gene symbol: MBD1
hgvsc: ENST00000398495.2:c.445C>T
hgvsp: ENSP00000381508.2:p.Arg149Trp
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467606
ensembl transcript: ENST00000592060
gene symbol: MBD1
hgvsc: ENST00000592060.1:c.219C>T
hgvsp: ENSP00000467606.1:p.Arg74Trp
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269469
ensembl transcript: ENST00000353909
gene symbol: MBD1
hgvsc: ENST00000353909.3:c.445C>T
hgvsp: ENSP00000269469.5:p.Arg149Trp
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000342531
ensembl transcript: ENST00000349085
gene symbol: MBD1
hgvsc: ENST00000349085.2:c.445C>T
hgvsp: ENSP00000342531.2:p.Arg149Trp
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000466092
ensembl transcript: ENST00000585672
gene symbol: MBD1
hgvsc: ENST00000585672.1:c.445C>T
hgvsp: ENSP00000466092.1:p.Arg149Trp
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 4560
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 353
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 815
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 343
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 577
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 362
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16011
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 29516
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1340
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 405
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 328
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4206
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 521
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 471
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1910
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1978
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38343
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9315
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6177
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

QD
type: SiteQuality
SIO_000300: 1.245e1

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 5.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 2.116545e6

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467606
ensembl transcript: ENST00000592060
gene symbol: MBD1
hgvsc: ENST00000592060.1:c.215G>A
hgvsp: ENST00000592060.1:c.215G>A(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000586118
gene symbol: MBD1
hgvsc: ENST00000586118.1:n.712G>A
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000339546
ensembl transcript: ENST00000339998
gene symbol: MBD1
hgvsc: ENST00000339998.6:c.441G>A
hgvsp: ENST00000339998.6:c.441G>A(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000372407
ensembl transcript: ENST00000382948
gene symbol: MBD1
hgvsc: ENST00000382948.5:c.441G>A
hgvsp: ENST00000382948.5:c.441G>A(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000589867
gene symbol: MBD1
hgvsc: ENST00000589867.1:n.639G>A
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 486
bin: 5.75e1
variant carriers: 20

GenotypeDepth
all individuals: 587
bin: 4.75e1
variant carriers: 12

GenotypeDepth
all individuals: 327
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4205
bin: 9.75e1
variant carriers: 22

GenotypeDepth
all individuals: 405
bin: 6.25e1
variant carriers: 4

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

GenotypeDepth
all individuals: 525
bin: 5.25e1
variant carriers: 8

GenotypeDepth
all individuals: 1331
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 16050
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 29490
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4555
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 390
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 366
bin: 6.75e1
variant carriers: 7

GenotypeDepth
all individuals: 345
bin: 7.25e1
variant carriers: 3

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

GenotypeDepth
all individuals: 810
bin: 4.25e1
variant carriers: 5

GenotypeDepth
all individuals: 353
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6191
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1914
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9351
bin: 9.75e1
variant carriers: 88

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

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1979
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38377
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1416
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.459609064175748e-4
allele num: 11562
num of homozygotes: 0

South Asian
type: Population
allele count: 18
allele frequency: 1.090380421613763e-3
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.923076923076923e-4
allele num: 10400
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 63
allele frequency: 9.443578366710636e-4
allele num: 66712
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.038e0

QD
type: SiteQuality
SIO_000300: 1.205e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.27e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

DP
type: SiteQuality
SIO_000300: 2.120853e6

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000468430
ensembl transcript: ENST00000585595
gene symbol: MBD1
hgvsc: ENST00000585595.1:c.438A>G
hgvsp: ENST00000585595.1:c.438A>G(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269468
ensembl transcript: ENST00000269468
gene symbol: MBD1
hgvsc: ENST00000269468.5:c.438A>G
hgvsp: ENST00000269468.5:c.438A>G(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000409561
ensembl transcript: ENST00000436910
gene symbol: MBD1
hgvsc: ENST00000436910.1:c.438A>G
hgvsp: ENST00000436910.1:c.438A>G(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000586118
gene symbol: MBD1
hgvsc: ENST00000586118.1:n.709A>G
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000468785
ensembl transcript: ENST00000590208
gene symbol: MBD1
hgvsc: ENST00000590208.1:c.438A>G
hgvsp: ENST00000590208.1:c.438A>G(p.%3D)
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 38
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29494
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 574
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 344
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 467
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1334
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4572
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4196
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16103
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 810
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 520
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 327
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 383
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9297
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1984
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1918
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6219
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38423
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.435e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.686e0

DP
type: SiteQuality
SIO_000300: 2.116807e6

VQSLOD
type: SiteQuality
SIO_000300: 9.57e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.51e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000405268
ensembl transcript: ENST00000457839
gene symbol: MBD1
hgvsc: ENST00000457839.2:c.436C>G
hgvsp: ENSP00000405268.2:p.Gln146Glu
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000342531
ensembl transcript: ENST00000349085
gene symbol: MBD1
hgvsc: ENST00000349085.2:c.436C>G
hgvsp: ENSP00000342531.2:p.Gln146Glu
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000466092
ensembl transcript: ENST00000585672
gene symbol: MBD1
hgvsc: ENST00000585672.1:c.436C>G
hgvsp: ENSP00000466092.1:p.Gln146Glu
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000372407
ensembl transcript: ENST00000382948
gene symbol: MBD1
hgvsc: ENST00000382948.5:c.436C>G
hgvsp: ENSP00000372407.5:p.Gln146Glu
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000589867
gene symbol: MBD1
hgvsc: ENST00000589867.1:n.634C>G
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 575
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 521
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 467
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1335
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 813
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4577
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 383
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29479
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16110
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 328
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4196
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 344
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1919
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6212
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9298
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38423
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1416
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997781641585227e-5
allele num: 66716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.39e-1

QD
type: SiteQuality
SIO_000300: 2.074e1

VQSLOD
type: SiteQuality
SIO_000300: -7.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.387e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.151e0

DP
type: SiteQuality
SIO_000300: 2.117145e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.67e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000342531
ensembl transcript: ENST00000349085
gene symbol: MBD1
hgvsc: ENST00000349085.2:c.420C>T
hgvsp: ENST00000349085.2:c.420C>T(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000372407
ensembl transcript: ENST00000382948
gene symbol: MBD1
hgvsc: ENST00000382948.5:c.420C>T
hgvsp: ENST00000382948.5:c.420C>T(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000468430
ensembl transcript: ENST00000585595
gene symbol: MBD1
hgvsc: ENST00000585595.1:c.420C>T
hgvsp: ENST00000585595.1:c.420C>T(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000465923
ensembl transcript: ENST00000591535
gene symbol: MBD1
hgvsc: ENST00000591535.1:c.420C>T
hgvsp: ENST00000591535.1:c.420C>T(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000589867
gene symbol: MBD1
hgvsc: ENST00000589867.1:n.618C>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000466092
ensembl transcript: ENST00000585672
gene symbol: MBD1
hgvsc: ENST00000585672.1:c.420C>T
hgvsp: ENST00000585672.1:c.420C>T(p.%3D)
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 327
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 467
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16166
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 522
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 29396
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4602
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4196
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 344
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 383
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 578
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1347
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 817
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38404
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9302
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1932
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1425
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1986
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6238
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.869e-1

QD
type: SiteQuality
SIO_000300: 1.329e1

MQRankSum
type: SiteQuality
SIO_000300: -1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.45e-1

DP
type: SiteQuality
SIO_000300: 2.11824e6

MQ
type: SiteQuality
SIO_000300: 5.922e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.082e0

FS
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.4e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381508
ensembl transcript: ENST00000398495
gene symbol: MBD1
hgvsc: ENST00000398495.2:c.405C>T
hgvsp: ENST00000398495.2:c.405C>T(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000586118
gene symbol: MBD1
hgvsc: ENST00000586118.1:n.676C>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000466092
ensembl transcript: ENST00000585672
gene symbol: MBD1
hgvsc: ENST00000585672.1:c.405C>T
hgvsp: ENST00000585672.1:c.405C>T(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000589867
gene symbol: MBD1
hgvsc: ENST00000589867.1:n.603C>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000342531
ensembl transcript: ENST00000349085
gene symbol: MBD1
hgvsc: ENST00000349085.2:c.405C>T
hgvsp: ENST00000349085.2:c.405C>T(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000285102
ensembl transcript: ENST00000347968
gene symbol: MBD1
hgvsc: ENST00000347968.3:c.405C>T
hgvsp: ENST00000347968.3:c.405C>T(p.%3D)
variant of: http://identifiers.org/hgnc/6916

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

GenotypeDepth
all individuals: 391
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4608
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 817
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16185
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 327
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4197
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 343
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29373
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1354
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 578
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 521
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 468
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 383
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38397
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1992
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 730
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6244
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 609
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9304
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.64e-1

QD
type: SiteQuality
SIO_000300: 1.448e1

MQ
type: SiteQuality
SIO_000300: 5.932e1

DP
type: SiteQuality
SIO_000300: 2.118693e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

FS
type: SiteQuality
SIO_000300: 3.982e0

MQRankSum
type: SiteQuality
SIO_000300: 7.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.56e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467017
ensembl transcript: ENST00000591416
gene symbol: MBD1
hgvsc: ENST00000591416.1:c.393-20A>G
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000409561
ensembl transcript: ENST00000436910
gene symbol: MBD1
hgvsc: ENST00000436910.1:c.393-20A>G
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000372407
ensembl transcript: ENST00000382948
gene symbol: MBD1
hgvsc: ENST00000382948.5:c.393-20A>G
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 383
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 327
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 524
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1357
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4611
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16202
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29352
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 468
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4197
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 355
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9307
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 38409
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6247
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1925
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 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: 10406
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.407e0

MQ
type: SiteQuality
SIO_000300: 5.558e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.379e0

QD
type: SiteQuality
SIO_000300: 3.45e0

FS
type: SiteQuality
SIO_000300: 2.1225e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

DP
type: SiteQuality
SIO_000300: 2.119279e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269469
ensembl transcript: ENST00000353909
gene symbol: MBD1
hgvsc: ENST00000353909.3:c.393-38delG
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000409561
ensembl transcript: ENST00000436910
gene symbol: MBD1
hgvsc: ENST00000436910.1:c.393-38delG
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000342531
ensembl transcript: ENST00000349085
gene symbol: MBD1
hgvsc: ENST00000349085.2:c.393-38delG
variant of: http://identifiers.org/hgnc/6916

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

GenotypeDepth
all individuals: 1363
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 523
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16200
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4605
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 468
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 327
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29360
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4197
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 383
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6248
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 609
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1429
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38406
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1996
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9311
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

DP
type: SiteQuality
SIO_000300: 2.119262e6

QD
type: SiteQuality
SIO_000300: 1.18e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.12e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381508
ensembl transcript: ENST00000398495
gene symbol: MBD1
hgvsc: ENST00000398495.2:c.393-38G>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000468042
ensembl transcript: ENST00000587605
gene symbol: MBD1
hgvsc: ENST00000587605.1:c.393-38G>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000342531
ensembl transcript: ENST00000349085
gene symbol: MBD1
hgvsc: ENST00000349085.2:c.393-38G>T
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 1363
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16202
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 383
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 523
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4604
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29359
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4197
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 359
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 468
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 327
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38416
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1429
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6248
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1996
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9311
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 725
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.11924e6

MQRankSum
type: SiteQuality
SIO_000300: -8.86e-1

FS
type: SiteQuality
SIO_000300: 3.834e0

QD
type: SiteQuality
SIO_000300: 1.176e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
SIO_000300: 3.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.384e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.48e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000464823
ensembl transcript: ENST00000590215
gene symbol: MBD1
hgvsc: ENST00000590215.1:c.*250-41G>A
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381502
ensembl transcript: ENST00000398488
gene symbol: MBD1
hgvsc: ENST00000398488.1:c.393-41G>A
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381508
ensembl transcript: ENST00000398495
gene symbol: MBD1
hgvsc: ENST00000398495.2:c.393-41G>A
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 468
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4601
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16202
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 327
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 523
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4197
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 29362
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1363
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 384
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1428
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38410
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1996
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6250
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9312
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1928
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.378e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.82e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.119294e6

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.31e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000464823
ensembl transcript: ENST00000590215
gene symbol: MBD1
hgvsc: ENST00000590215.1:c.*249+37G>A
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467606
ensembl transcript: ENST00000592060
gene symbol: MBD1
hgvsc: ENST00000592060.1:c.166+37G>A
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000409561
ensembl transcript: ENST00000436910
gene symbol: MBD1
hgvsc: ENST00000436910.1:c.392+37G>A
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 403
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29367
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1362
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 523
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16194
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 327
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 384
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4598
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4197
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 579
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 469
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9313
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 38415
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1926
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1999
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6244
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.13e-1

QD
type: SiteQuality
SIO_000300: 1.381e1

VQSLOD
type: SiteQuality
SIO_000300: -1.121e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.918e1

DP
type: SiteQuality
SIO_000300: 2.119213e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.051e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.789e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000468042
ensembl transcript: ENST00000587605
gene symbol: MBD1
hgvsc: ENST00000587605.1:c.392+36G>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000339546
ensembl transcript: ENST00000339998
gene symbol: MBD1
hgvsc: ENST00000339998.6:c.392+36G>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467763
ensembl transcript: ENST00000588937
gene symbol: MBD1
hgvsc: ENST00000588937.1:c.392+36G>T
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4597
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1360
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29367
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 469
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16195
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 359
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4197
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 327
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 384
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 523
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2000
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1925
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38409
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6242
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9314
bin: 9.75e1
variant carriers: 1

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: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

DP
type: SiteQuality
SIO_000300: 2.119235e6

VQSLOD
type: SiteQuality
SIO_000300: 6.14e-1

QD
type: SiteQuality
SIO_000300: 1.527e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.55e-1

FS
type: SiteQuality
SIO_000300: 4.118e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.388e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000468042
ensembl transcript: ENST00000587605
gene symbol: MBD1
hgvsc: ENST00000587605.1:c.392+31G>A
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381506
ensembl transcript: ENST00000398493
gene symbol: MBD1
hgvsc: ENST00000398493.1:c.392+31G>A
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000468785
ensembl transcript: ENST00000590208
gene symbol: MBD1
hgvsc: ENST00000590208.1:c.392+31G>A
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 523
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 327
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 404
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4196
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1360
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4594
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 384
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16198
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29365
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 578
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 469
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 392
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1924
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38409
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1425
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6243
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2000
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9315
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.441e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

MQ
type: SiteQuality
SIO_000300: 5.869e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.045e0

FS
type: SiteQuality
SIO_000300: 1.475e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 2.119121e6

QD
type: SiteQuality
SIO_000300: 1.105e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269471
ensembl transcript: ENST00000269471
gene symbol: MBD1
hgvsc: ENST00000269471.5:c.392+23C>G
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000339546
ensembl transcript: ENST00000339998
gene symbol: MBD1
hgvsc: ENST00000339998.6:c.392+23C>G
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000468785
ensembl transcript: ENST00000590208
gene symbol: MBD1
hgvsc: ENST00000590208.1:c.392+23C>G
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 328
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4242
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 392
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 523
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 468
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29335
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16180
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1359
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 384
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4585
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 609
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6231
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38371
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1919
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9358
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1999
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.126526e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.467e0

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 6.25e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000342531
ensembl transcript: ENST00000349085
gene symbol: MBD1
hgvsc: ENST00000349085.2:c.392+23C>A
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000409561
ensembl transcript: ENST00000436910
gene symbol: MBD1
hgvsc: ENST00000436910.1:c.392+23C>A
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467763
ensembl transcript: ENST00000588937
gene symbol: MBD1
hgvsc: ENST00000588937.1:c.392+23C>A
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 16180
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29335
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 328
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 404
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 468
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1359
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4585
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4242
bin: 9.75e1
variant carriers: 45

GenotypeDepth
all individuals: 384
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 523
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 392
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1919
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9358
bin: 9.75e1
variant carriers: 46

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 726
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38371
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6231
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1999
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 46
allele frequency: 3.973052340646053e-3
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

DP
type: SiteQuality
SIO_000300: 2.126526e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 6.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.467e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000342531
ensembl transcript: ENST00000349085
gene symbol: MBD1
hgvsc: ENST00000349085.2:c.392+22G>A
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381502
ensembl transcript: ENST00000398488
gene symbol: MBD1
hgvsc: ENST00000398488.1:c.392+22G>A
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381508
ensembl transcript: ENST00000398495
gene symbol: MBD1
hgvsc: ENST00000398495.2:c.392+22G>A
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 348
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 578
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16182
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4584
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 472
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1360
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 337
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 523
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 406
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29333
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 389
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4208
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 361
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1999
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6234
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38376
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1919
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9359
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.855e0

VQSLOD
type: SiteQuality
SIO_000300: 9.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 2.121949e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.049e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.131e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.003e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000468042
ensembl transcript: ENST00000587605
gene symbol: MBD1
hgvsc: ENST00000587605.1:c.392+15A>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467763
ensembl transcript: ENST00000588937
gene symbol: MBD1
hgvsc: ENST00000588937.1:c.392+15A>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000339546
ensembl transcript: ENST00000339998
gene symbol: MBD1
hgvsc: ENST00000339998.6:c.392+15A>T
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 406
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 823
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 523
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4581
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 578
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 337
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1362
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 389
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4208
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16172
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29328
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 348
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6227
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38357
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9360
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2000
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1919
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 1.977e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.279e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.974e0

DP
type: SiteQuality
SIO_000300: 2.121759e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e0

MQ
type: SiteQuality
SIO_000300: 5.991e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000285102
ensembl transcript: ENST00000347968
gene symbol: MBD1
hgvsc: ENST00000347968.3:c.392+12T>G
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000339546
ensembl transcript: ENST00000339998
gene symbol: MBD1
hgvsc: ENST00000339998.6:c.392+12T>G
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467017
ensembl transcript: ENST00000591416
gene symbol: MBD1
hgvsc: ENST00000591416.1:c.392+12T>G
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1362
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 339
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 29325
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 389
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4576
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 406
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 348
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 523
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16154
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4210
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 361
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 609
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1919
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6216
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9363
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38325
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 725
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1996
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

African
type: Population
allele count: 5
allele frequency: 4.805843906189927e-4
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.862e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.84e-1

DP
type: SiteQuality
SIO_000300: 2.121887e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.17e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

QD
type: SiteQuality
SIO_000300: 1.254e1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381508
ensembl transcript: ENST00000398495
gene symbol: MBD1
hgvsc: ENST00000398495.2:c.392+7G>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000464823
ensembl transcript: ENST00000590215
gene symbol: MBD1
hgvsc: ENST00000590215.1:c.*249+7G>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000372407
ensembl transcript: ENST00000382948
gene symbol: MBD1
hgvsc: ENST00000382948.5:c.392+7G>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467017
ensembl transcript: ENST00000591416
gene symbol: MBD1
hgvsc: ENST00000591416.1:c.392+7G>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269469
ensembl transcript: ENST00000353909
gene symbol: MBD1
hgvsc: ENST00000353909.3:c.392+7G>T
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29334
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 524
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4208
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 338
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1362
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16148
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4574
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 349
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 578
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 389
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 406
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6217
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9362
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1920
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1995
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38336
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.073e0

QD
type: SiteQuality
SIO_000300: 1.219e1

DP
type: SiteQuality
SIO_000300: 2.121722e6

VQSLOD
type: SiteQuality
SIO_000300: 6.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000465923
ensembl transcript: ENST00000591535
gene symbol: MBD1
hgvsc: ENST00000591535.1:c.386C>T
hgvsp: ENSP00000465923.1:p.Ala129Val
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467606
ensembl transcript: ENST00000592060
gene symbol: MBD1
hgvsc: ENST00000592060.1:c.160C>T
hgvsp: ENSP00000467606.1:p.Ala54Val
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000464823
ensembl transcript: ENST00000590215
gene symbol: MBD1
hgvsc: ENST00000590215.1:c.*243C>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381506
ensembl transcript: ENST00000398493
gene symbol: MBD1
hgvsc: ENST00000398493.1:c.386C>T
hgvsp: ENSP00000381506.1:p.Ala129Val
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000405268
ensembl transcript: ENST00000457839
gene symbol: MBD1
hgvsc: ENST00000457839.2:c.386C>T
hgvsp: ENSP00000405268.2:p.Ala129Val
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 338
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 406
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1359
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 349
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 389
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29353
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4208
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 524
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16134
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4571
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 578
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6218
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38336
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9362
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1921
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.121441e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.786e0

QD
type: SiteQuality
SIO_000300: 1.232e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.26e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000465923
ensembl transcript: ENST00000591535
gene symbol: MBD1
hgvsc: ENST00000591535.1:c.381C>T
hgvsp: ENST00000591535.1:c.381C>T(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000586118
gene symbol: MBD1
hgvsc: ENST00000586118.1:n.565C>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000468430
ensembl transcript: ENST00000585595
gene symbol: MBD1
hgvsc: ENST00000585595.1:c.381C>T
hgvsp: ENST00000585595.1:c.381C>T(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000405268
ensembl transcript: ENST00000457839
gene symbol: MBD1
hgvsc: ENST00000457839.2:c.381C>T
hgvsp: ENST00000457839.2:c.381C>T(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381506
ensembl transcript: ENST00000398493
gene symbol: MBD1
hgvsc: ENST00000398493.1:c.381C>T
hgvsp: ENST00000398493.1:c.381C>T(p.%3D)
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 349
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 524
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29354
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 407
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16134
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4208
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 821
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 338
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4573
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1358
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 389
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1922
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38345
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 728
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1993
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6217
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9362
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.11e0

DP
type: SiteQuality
SIO_000300: 2.121569e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.849e1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

QD
type: SiteQuality
SIO_000300: 1.076e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.46e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467763
ensembl transcript: ENST00000588937
gene symbol: MBD1
hgvsc: ENST00000588937.1:c.365C>T
hgvsp: ENSP00000467763.1:p.Thr122Ile
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000589867
gene symbol: MBD1
hgvsc: ENST00000589867.1:n.476C>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467606
ensembl transcript: ENST00000592060
gene symbol: MBD1
hgvsc: ENST00000592060.1:c.139C>T
hgvsp: ENSP00000467606.1:p.Thr47Ile
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000586118
gene symbol: MBD1
hgvsc: ENST00000586118.1:n.549C>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000372407
ensembl transcript: ENST00000382948
gene symbol: MBD1
hgvsc: ENST00000382948.5:c.365C>T
hgvsp: ENSP00000372407.5:p.Thr122Ile
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 29351
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16138
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 338
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 524
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 581
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 407
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1357
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 349
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 389
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4211
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 361
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4578
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6224
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1923
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9368
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1992
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38343
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.122129e6

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.109e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

FS
type: SiteQuality
SIO_000300: 2.468e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.283e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000589867
gene symbol: MBD1
hgvsc: ENST00000589867.1:n.473A>C
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000339546
ensembl transcript: ENST00000339998
gene symbol: MBD1
hgvsc: ENST00000339998.6:c.362A>C
hgvsp: ENSP00000339546.5:p.Asp121Ala
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000464823
ensembl transcript: ENST00000590215
gene symbol: MBD1
hgvsc: ENST00000590215.1:c.*219A>C
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467017
ensembl transcript: ENST00000591416
gene symbol: MBD1
hgvsc: ENST00000591416.1:c.362A>C
hgvsp: ENSP00000467017.1:p.Asp121Ala
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000409561
ensembl transcript: ENST00000436910
gene symbol: MBD1
hgvsc: ENST00000436910.1:c.362A>C
hgvsp: ENSP00000409561.1:p.Asp121Ala
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 581
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16142
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4209
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1358
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 349
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 338
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4579
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 407
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 390
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29352
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 524
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38351
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6227
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1924
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9367
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 611
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
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: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: 3.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.957e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.44e0

QD
type: SiteQuality
SIO_000300: 1.516e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

DP
type: SiteQuality
SIO_000300: 2.122028e6

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000342531
ensembl transcript: ENST00000349085
gene symbol: MBD1
hgvsc: ENST00000349085.2:c.357C>T
hgvsp: ENST00000349085.2:c.357C>T(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000468430
ensembl transcript: ENST00000585595
gene symbol: MBD1
hgvsc: ENST00000585595.1:c.357C>T
hgvsp: ENST00000585595.1:c.357C>T(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000465923
ensembl transcript: ENST00000591535
gene symbol: MBD1
hgvsc: ENST00000591535.1:c.357C>T
hgvsp: ENST00000591535.1:c.357C>T(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269468
ensembl transcript: ENST00000269468
gene symbol: MBD1
hgvsc: ENST00000269468.5:c.357C>T
hgvsp: ENST00000269468.5:c.357C>T(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000405268
ensembl transcript: ENST00000457839
gene symbol: MBD1
hgvsc: ENST00000457839.2:c.357C>T
hgvsp: ENST00000457839.2:c.357C>T(p.%3D)
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 338
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 407
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 581
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1359
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16144
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4582
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 349
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 390
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29343
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4209
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 524
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1996
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1925
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9367
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6227
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38339
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 1.273e1

DP
type: SiteQuality
SIO_000300: 2.121909e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.19e0

FS
type: SiteQuality
SIO_000300: 5.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000342531
ensembl transcript: ENST00000349085
gene symbol: MBD1
hgvsc: ENST00000349085.2:c.350A>T
hgvsp: ENSP00000342531.2:p.Lys117Met
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000409561
ensembl transcript: ENST00000436910
gene symbol: MBD1
hgvsc: ENST00000436910.1:c.350A>T
hgvsp: ENSP00000409561.1:p.Lys117Met
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467606
ensembl transcript: ENST00000592060
gene symbol: MBD1
hgvsc: ENST00000592060.1:c.124A>T
hgvsp: ENSP00000467606.1:p.Lys42Met
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269469
ensembl transcript: ENST00000353909
gene symbol: MBD1
hgvsc: ENST00000353909.3:c.350A>T
hgvsp: ENSP00000269469.5:p.Lys117Met
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000339546
ensembl transcript: ENST00000339998
gene symbol: MBD1
hgvsc: ENST00000339998.6:c.350A>T
hgvsp: ENSP00000339546.5:p.Lys117Met
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4582
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29341
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16146
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 581
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 338
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1358
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 349
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 524
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 4208
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 390
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 407
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1425
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1926
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38342
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6229
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9367
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1995
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

DP
type: SiteQuality
SIO_000300: 2.121822e6

FS
type: SiteQuality
SIO_000300: 3.546e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.054e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467606
ensembl transcript: ENST00000592060
gene symbol: MBD1
hgvsc: ENST00000592060.1:c.110G>A
hgvsp: ENST00000592060.1:c.110G>A(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000372407
ensembl transcript: ENST00000382948
gene symbol: MBD1
hgvsc: ENST00000382948.5:c.336G>A
hgvsp: ENST00000382948.5:c.336G>A(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000405268
ensembl transcript: ENST00000457839
gene symbol: MBD1
hgvsc: ENST00000457839.2:c.336G>A
hgvsp: ENST00000457839.2:c.336G>A(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000464823
ensembl transcript: ENST00000590215
gene symbol: MBD1
hgvsc: ENST00000590215.1:c.*193G>A
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000342531
ensembl transcript: ENST00000349085
gene symbol: MBD1
hgvsc: ENST00000349085.2:c.336G>A
hgvsp: ENST00000349085.2:c.336G>A(p.%3D)
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 1357
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 349
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 407
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29346
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16134
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 582
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4586
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 338
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 524
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 390
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4209
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 361
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6225
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1996
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1923
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 612
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9368
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 38324
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
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: 66736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 7.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.047e1

MQRankSum
type: SiteQuality
SIO_000300: 9.51e-1

DP
type: SiteQuality
SIO_000300: 2.12205e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000409561
ensembl transcript: ENST00000436910
gene symbol: MBD1
hgvsc: ENST00000436910.1:c.335C>T
hgvsp: ENSP00000409561.1:p.Pro112Leu
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000589867
gene symbol: MBD1
hgvsc: ENST00000589867.1:n.446C>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269468
ensembl transcript: ENST00000269468
gene symbol: MBD1
hgvsc: ENST00000269468.5:c.335C>T
hgvsp: ENSP00000269468.5:p.Pro112Leu
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000342531
ensembl transcript: ENST00000349085
gene symbol: MBD1
hgvsc: ENST00000349085.2:c.335C>T
hgvsp: ENSP00000342531.2:p.Pro112Leu
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381502
ensembl transcript: ENST00000398488
gene symbol: MBD1
hgvsc: ENST00000398488.1:c.335C>T
hgvsp: ENSP00000381502.1:p.Pro112Leu
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1357
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 524
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4584
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16136
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4210
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 472
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 582
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 407
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 349
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29352
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 390
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 338
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38339
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9369
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1997
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1923
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6228
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.713e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.61e-1

FS
type: SiteQuality
SIO_000300: 9.958e0

DP
type: SiteQuality
SIO_000300: 2.122027e6

QD
type: SiteQuality
SIO_000300: 7.03e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000409561
ensembl transcript: ENST00000436910
gene symbol: MBD1
hgvsc: ENST00000436910.1:c.329A>C
hgvsp: ENSP00000409561.1:p.Glu110Ala
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000342531
ensembl transcript: ENST00000349085
gene symbol: MBD1
hgvsc: ENST00000349085.2:c.329A>C
hgvsp: ENSP00000342531.2:p.Glu110Ala
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000586118
gene symbol: MBD1
hgvsc: ENST00000586118.1:n.513A>C
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000589867
gene symbol: MBD1
hgvsc: ENST00000589867.1:n.440A>C
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000468785
ensembl transcript: ENST00000590208
gene symbol: MBD1
hgvsc: ENST00000590208.1:c.329A>C
hgvsp: ENSP00000468785.1:p.Glu110Ala
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 524
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 582
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16133
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4588
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29361
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1357
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 349
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 390
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4210
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 407
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 338
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9369
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1998
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 38351
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1925
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6225
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 66736
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.73e-1

FS
type: SiteQuality
SIO_000300: 1.686e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.606e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.17e0

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.122152e6

QD
type: SiteQuality
SIO_000300: 1.241e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000372407
ensembl transcript: ENST00000382948
gene symbol: MBD1
hgvsc: ENST00000382948.5:c.316G>A
hgvsp: ENSP00000372407.5:p.Glu106Lys
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000586118
gene symbol: MBD1
hgvsc: ENST00000586118.1:n.500G>A
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381508
ensembl transcript: ENST00000398495
gene symbol: MBD1
hgvsc: ENST00000398495.2:c.316G>A
hgvsp: ENSP00000381508.2:p.Glu106Lys
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000342531
ensembl transcript: ENST00000349085
gene symbol: MBD1
hgvsc: ENST00000349085.2:c.316G>A
hgvsp: ENSP00000342531.2:p.Glu106Lys
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000589867
gene symbol: MBD1
hgvsc: ENST00000589867.1:n.427G>A
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 823
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16137
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4216
bin: 9.75e1
variant carriers: 7

GenotypeDepth
all individuals: 582
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1356
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 349
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 29348
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4587
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 390
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 524
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 338
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 407
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1925
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38336
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1999
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9375
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1426
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6226
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.883506343713956e-4
allele num: 10404
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: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.123031e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

QD
type: SiteQuality
SIO_000300: 1.196e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.226e0

FS
type: SiteQuality
SIO_000300: 6.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000285102
ensembl transcript: ENST00000347968
gene symbol: MBD1
hgvsc: ENST00000347968.3:c.305C>T
hgvsp: ENSP00000285102.5:p.Pro102Leu
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000405268
ensembl transcript: ENST00000457839
gene symbol: MBD1
hgvsc: ENST00000457839.2:c.305C>T
hgvsp: ENSP00000405268.2:p.Pro102Leu
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269468
ensembl transcript: ENST00000269468
gene symbol: MBD1
hgvsc: ENST00000269468.5:c.305C>T
hgvsp: ENSP00000269468.5:p.Pro102Leu
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269469
ensembl transcript: ENST00000353909
gene symbol: MBD1
hgvsc: ENST00000353909.3:c.305C>T
hgvsp: ENSP00000269469.5:p.Pro102Leu
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000465923
ensembl transcript: ENST00000591535
gene symbol: MBD1
hgvsc: ENST00000591535.1:c.305C>T
hgvsp: ENSP00000465923.1:p.Pro102Leu
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 407
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16139
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4591
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 349
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4210
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 29357
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 339
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 1357
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 823
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 524
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 582
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9371
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1926
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38350
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2001
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6230
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e-1

QD
type: SiteQuality
SIO_000300: 1.135e1

DP
type: SiteQuality
SIO_000300: 2.122433e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.397e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269468
ensembl transcript: ENST00000269468
gene symbol: MBD1
hgvsc: ENST00000269468.5:c.293G>A
hgvsp: ENSP00000269468.5:p.Arg98His
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000589867
gene symbol: MBD1
hgvsc: ENST00000589867.1:n.404G>A
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000409561
ensembl transcript: ENST00000436910
gene symbol: MBD1
hgvsc: ENST00000436910.1:c.293G>A
hgvsp: ENSP00000409561.1:p.Arg98His
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381506
ensembl transcript: ENST00000398493
gene symbol: MBD1
hgvsc: ENST00000398493.1:c.293G>A
hgvsp: ENSP00000381506.1:p.Arg98His
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269469
ensembl transcript: ENST00000353909
gene symbol: MBD1
hgvsc: ENST00000353909.3:c.293G>A
hgvsp: ENSP00000269469.5:p.Arg98His
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 407
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 525
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 583
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16145
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1357
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 349
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29350
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4212
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4590
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 339
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 823
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6228
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 727
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1925
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9374
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 612
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38353
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2001
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 10404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.935e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.13e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: -9.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e-1

DP
type: SiteQuality
SIO_000300: 2.122838e6

QD
type: SiteQuality
SIO_000300: 1.351e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269471
ensembl transcript: ENST00000269471
gene symbol: MBD1
hgvsc: ENST00000269471.5:c.292C>T
hgvsp: ENSP00000269471.5:p.Arg98Cys
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381502
ensembl transcript: ENST00000398488
gene symbol: MBD1
hgvsc: ENST00000398488.1:c.292C>T
hgvsp: ENSP00000381502.1:p.Arg98Cys
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000409561
ensembl transcript: ENST00000436910
gene symbol: MBD1
hgvsc: ENST00000436910.1:c.292C>T
hgvsp: ENSP00000409561.1:p.Arg98Cys
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000464823
ensembl transcript: ENST00000590215
gene symbol: MBD1
hgvsc: ENST00000590215.1:c.*149C>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000586118
gene symbol: MBD1
hgvsc: ENST00000586118.1:n.476C>T
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 29352
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 339
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4211
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 823
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 583
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 349
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4591
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1357
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 525
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16145
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 407
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2002
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9373
bin: 9.75e1
variant carriers: 3

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

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

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1425
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1926
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38359
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6228
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

DP
type: SiteQuality
SIO_000300: 2.122884e6

QD
type: SiteQuality
SIO_000300: 1.139e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000586118
gene symbol: MBD1
hgvsc: ENST00000586118.1:n.471G>A
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467606
ensembl transcript: ENST00000592060
gene symbol: MBD1
hgvsc: ENST00000592060.1:c.61G>A
hgvsp: ENSP00000467606.1:p.Arg21Gln
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269469
ensembl transcript: ENST00000353909
gene symbol: MBD1
hgvsc: ENST00000353909.3:c.287G>A
hgvsp: ENSP00000269469.5:p.Arg96Gln
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000405268
ensembl transcript: ENST00000457839
gene symbol: MBD1
hgvsc: ENST00000457839.2:c.287G>A
hgvsp: ENSP00000405268.2:p.Arg96Gln
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269468
ensembl transcript: ENST00000269468
gene symbol: MBD1
hgvsc: ENST00000269468.5:c.287G>A
hgvsp: ENSP00000269468.5:p.Arg96Gln
variant of: http://identifiers.org/hgnc/6916

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

GenotypeDepth
all individuals: 362
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4592
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 349
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 339
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1357
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 583
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 525
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29347
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4213
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 407
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16146
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1926
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9375
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 38349
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2001
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6228
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993407252022775e-5
allele num: 66740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 2.122904e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.19e-1

QD
type: SiteQuality
SIO_000300: 1.3e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269469
ensembl transcript: ENST00000353909
gene symbol: MBD1
hgvsc: ENST00000353909.3:c.286C>T
hgvsp: ENSP00000269469.5:p.Arg96Trp
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000464823
ensembl transcript: ENST00000590215
gene symbol: MBD1
hgvsc: ENST00000590215.1:c.*143C>T
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000409561
ensembl transcript: ENST00000436910
gene symbol: MBD1
hgvsc: ENST00000436910.1:c.286C>T
hgvsp: ENSP00000409561.1:p.Arg96Trp
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269471
ensembl transcript: ENST00000269471
gene symbol: MBD1
hgvsc: ENST00000269471.5:c.286C>T
hgvsp: ENSP00000269471.5:p.Arg96Trp
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000381506
ensembl transcript: ENST00000398493
gene symbol: MBD1
hgvsc: ENST00000398493.1:c.286C>T
hgvsp: ENSP00000381506.1:p.Arg96Trp
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 406
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4216
bin: 9.75e1
variant carriers: 8

GenotypeDepth
all individuals: 524
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16147
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 583
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 349
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29344
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1357
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 339
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4592
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38355
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2001
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9378
bin: 9.75e1
variant carriers: 9

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

GenotypeQuality
all individuals: 1924
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 611
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6230
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.348516631705124e-4
allele num: 66740
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.319e0

VQSLOD
type: SiteQuality
SIO_000300: 5.71e0

DP
type: SiteQuality
SIO_000300: 2.123292e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

QD
type: SiteQuality
SIO_000300: 1.412e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467017
ensembl transcript: ENST00000591416
gene symbol: MBD1
hgvsc: ENST00000591416.1:c.281A>C
hgvsp: ENSP00000467017.1:p.Lys94Thr
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000465923
ensembl transcript: ENST00000591535
gene symbol: MBD1
hgvsc: ENST00000591535.1:c.281A>C
hgvsp: ENSP00000465923.1:p.Lys94Thr
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000586118
gene symbol: MBD1
hgvsc: ENST00000586118.1:n.465A>C
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269469
ensembl transcript: ENST00000353909
gene symbol: MBD1
hgvsc: ENST00000353909.3:c.281A>C
hgvsp: ENSP00000269469.5:p.Lys94Thr
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000285102
ensembl transcript: ENST00000347968
gene symbol: MBD1
hgvsc: ENST00000347968.3:c.281A>C
hgvsp: ENSP00000285102.5:p.Lys94Thr
variant of: http://identifiers.org/hgnc/6916

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

GenotypeDepth
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4209
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 583
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29342
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4594
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16154
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 349
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1357
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 339
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 392
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 524
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 406
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 823
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6229
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9371
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2003
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38347
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 612
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1923
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.012e0

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

DP
type: SiteQuality
SIO_000300: 2.122504e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.846e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.58e-1

QD
type: SiteQuality
SIO_000300: 1.735e1

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000468785
ensembl transcript: ENST00000590208
gene symbol: MBD1
hgvsc: ENST00000590208.1:c.273G>C
hgvsp: ENSP00000468785.1:p.Arg91Ser
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000589867
gene symbol: MBD1
hgvsc: ENST00000589867.1:n.384G>C
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467606
ensembl transcript: ENST00000592060
gene symbol: MBD1
hgvsc: ENST00000592060.1:c.47G>C
hgvsp: ENSP00000467606.1:p.Arg16Ser
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000464823
ensembl transcript: ENST00000590215
gene symbol: MBD1
hgvsc: ENST00000590215.1:c.*130G>C
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269469
ensembl transcript: ENST00000353909
gene symbol: MBD1
hgvsc: ENST00000353909.3:c.273G>C
hgvsp: ENSP00000269469.5:p.Arg91Ser
variant of: http://identifiers.org/hgnc/6916

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

GenotypeDepth
all individuals: 1356
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16158
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4593
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 523
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 339
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29342
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 823
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4209
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 406
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 349
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 392
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 583
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6230
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1923
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2001
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9371
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 726
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38360
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1425
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 66738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.56e-1

DP
type: SiteQuality
SIO_000300: 2.122438e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.163e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.892e1

VQSLOD
type: SiteQuality
SIO_000300: -1.442e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

FS
type: SiteQuality
SIO_000300: 7.59e-1

QD
type: SiteQuality
SIO_000300: 1.225e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000269469
ensembl transcript: ENST00000353909
gene symbol: MBD1
hgvsc: ENST00000353909.3:c.258A>G
hgvsp: ENST00000353909.3:c.258A>G(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000285102
ensembl transcript: ENST00000347968
gene symbol: MBD1
hgvsc: ENST00000347968.3:c.258A>G
hgvsp: ENST00000347968.3:c.258A>G(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000467017
ensembl transcript: ENST00000591416
gene symbol: MBD1
hgvsc: ENST00000591416.1:c.258A>G
hgvsp: ENST00000591416.1:c.258A>G(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000141644
ensembl protein: ENSP00000339546
ensembl transcript: ENST00000339998
gene symbol: MBD1
hgvsc: ENST00000339998.6:c.258A>G
hgvsp: ENST00000339998.6:c.258A>G(p.%3D)
variant of: http://identifiers.org/hgnc/6916

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000141644
ensembl transcript: ENST00000589867
gene symbol: MBD1
hgvsc: ENST00000589867.1:n.369A>G
variant of: http://identifiers.org/hgnc/6916

GenotypeDepth
all individuals: 339
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 523
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16156
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4590
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 823
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 583
bin: 4.75e1
variant carriers: 0